Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P38398
728984
672

BRCA1_HUMAN RecName: Full=Breast cancer type 1 susceptibility protein; AltName: Full=RING finger protein 53

Known Diseases associated with this Protein:
  BREAST CANCER (BC)
  BREAST-OVARIAN CANCER, FAMILIAL, 1 (BROVCA1)
  BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
  OVARIAN CANCER (OC)
42
141
15
9
159
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

RING - cd00162
RING - smart00184
zf-C3HC4 - pfam00097
EIN3 - pfam04873
BRCT - pfam00533
BRCT - smart00292
BRCT - cd00027


Swiss-Prot Protein: P38398
Identical to: NP_009225
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRCTcd000276.4e-1216491724
BRCTcd000275.3e-1117631843
zf-C3HC4pfam000971.2e-112464
EIN3pfam048731.8e-173648978
BRCTpfam005336e-1116421723
BRCTpfam005334e-1217561842
RINGsmart001844.6e-122464
BRCTsmart002927e-0716451726
BRCTsmart002929.2e-1517591845

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007796Diseasep.ALA1708GLUBreast cancer (BC)
Swiss-ProtVAR_063901Polymorphismp.ALA1623GLYN/A
Swiss-ProtVAR_008762Polymorphismp.ALA1641PRON/A
Swiss-ProtVAR_070514Polymorphismp.ALA1789THRN/A
Swiss-ProtVAR_070478Polymorphismp.ARG866CYSN/A
Swiss-ProtVAR_020112Polymorphismp.ARG1443GLNN/A
Swiss-ProtVAR_070501Polymorphismp.ARG1699GLNN/A
Swiss-ProtVAR_070477Polymorphismp.ARG841GLNN/A
Swiss-ProtVAR_020686Polymorphismp.ARG866GLNN/A
Swiss-ProtVAR_020697Diseasep.ARG1243GLYBreast-ovarian cancer, familial, 1 (BROVCA1)
Swiss-ProtVAR_007785Polymorphismp.ARG1347GLYN/A
Swiss-ProtVAR_007787Polymorphismp.ARG1443GLYN/A
Swiss-ProtVAR_020692Diseasep.ARG1204ILEBreast cancer (BC)
Swiss-ProtVAR_007767Polymorphismp.ARG507ILEN/A
Swiss-ProtVAR_020681Polymorphismp.ARG71LYSN/A
Swiss-ProtVAR_063900Polymorphismp.ARG1495METN/A
Swiss-ProtVAR_070493Polymorphismp.ARG1589PRON/A
Swiss-ProtVAR_070510Polymorphismp.ARG1753THRN/A
Swiss-ProtVAR_020703Diseasep.ARG1699TRPOvarian cancer (OC)
Swiss-ProtVAR_070466Polymorphismp.ARG170TRPN/A
Swiss-ProtVAR_007773Polymorphismp.ARG841TRPN/A
dbSNPrs4986845 Polymorphismp.ASN723ASPN/A
Swiss-ProtVAR_020682Polymorphismp.ASN656ILEN/A
Swiss-ProtVAR_052078Polymorphismp.ASN1236LYSN/A
Swiss-ProtVAR_070462Polymorphismp.ASN132LYSN/A
Swiss-ProtVAR_070476Polymorphismp.ASN810TYRN/A
Swiss-ProtVAR_008763Polymorphismp.ASP1692ASNN/A
dbSNPrs4986850 Polymorphismp.ASP693ASNN/A
Swiss-ProtVAR_070474Polymorphismp.ASP695ASNN/A
Swiss-ProtVAR_070507Polymorphismp.ASP1739GLYN/A
Swiss-ProtVAR_070460Polymorphismp.ASP67TYRN/A
Swiss-ProtVAR_020683Diseasep.ASP749TYRBreast cancer (BC)
Swiss-ProtVAR_070508Polymorphismp.ASP1739VALN/A
Swiss-ProtVAR_070470Polymorphismp.ASP245VALN/A
Swiss-ProtVAR_020702Diseasep.CYS1697ARGOvarian cancer (OC)
Swiss-ProtVAR_007757Diseasep.CYS61GLYOvarian cancer (OC)
Swiss-ProtVAR_007758Diseasep.CYS64GLYBreast cancer (BC)
Swiss-ProtVAR_070511Polymorphismp.CYS1767SERN/A
Swiss-ProtVAR_007759Polymorphismp.CYS64TYRN/A
dbSNPrs1799950 Polymorphismp.GLN356ARGN/A
Swiss-ProtVAR_020691Diseasep.GLN1200HISBreast-ovarian cancer, familial, 1 (BROVCA1)
Swiss-ProtVAR_020688Polymorphismp.GLU1060ALAN/A
Swiss-ProtVAR_007784Polymorphismp.GLU1219ASPN/A
Swiss-ProtVAR_070515Polymorphismp.GLU1794ASPN/A
Swiss-ProtVAR_007779Polymorphismp.GLU1038GLYN/A
Swiss-ProtVAR_020694Polymorphismp.GLU1210GLYN/A
Swiss-ProtVAR_020679Diseasep.GLU10LYSBreast-ovarian cancer, familial, 1 (BROVCA1)
Swiss-ProtVAR_070481Polymorphismp.GLU1214LYSN/A
Swiss-ProtVAR_052079Polymorphismp.GLU1250LYSN/A
Swiss-ProtVAR_070486Polymorphismp.GLU1346LYSN/A
Swiss-ProtVAR_070505Polymorphismp.GLU1735LYSN/A
Swiss-ProtVAR_008759Polymorphismp.GLU227LYSN/A
Swiss-ProtVAR_020680Diseasep.GLU23LYSBreast-ovarian cancer, familial, 1 (BROVCA1)
Swiss-ProtVAR_070483Polymorphismp.GLU1282VALN/A
Swiss-ProtVAR_070502Polymorphismp.GLY1706ALAN/A
Swiss-ProtVAR_063907Polymorphismp.GLY1738ARGN/A
Swiss-ProtVAR_007776Diseasep.GLY960ASPBreast cancer (BC)
Swiss-ProtVAR_035949Polymorphismp.GLY778CYSN/A
Swiss-ProtVAR_063905Polymorphismp.GLY1706GLUN/A
Swiss-ProtVAR_019944Polymorphismp.GLY275SERN/A
Swiss-ProtVAR_070512Polymorphismp.GLY1770VALN/A
Swiss-ProtVAR_063910Polymorphismp.GLY1788VALN/A
Swiss-ProtVAR_007768Diseasep.GLY552VALBreast cancer (BC)
Swiss-ProtVAR_070498Polymorphismp.HIS1686ARGN/A
Swiss-ProtVAR_007760Polymorphismp.HIS239ARGN/A
Swiss-ProtVAR_070497Polymorphismp.HIS1686GLNN/A
Swiss-ProtVAR_070509Polymorphismp.HIS1746GLNN/A
Swiss-ProtVAR_070519Polymorphismp.HIS1862LEUN/A
dbSNPrs201196020 Polymorphismp.HIS1860PRON/A
Swiss-ProtVAR_020684Polymorphismp.HIS835TYRN/A
Swiss-ProtVAR_020687Polymorphismp.HIS888TYRN/A
Swiss-ProtVAR_021913Polymorphismp.ILE925LEUN/A
Swiss-ProtVAR_007764Polymorphismp.ILE379METN/A
Swiss-ProtVAR_063909Polymorphismp.ILE1766SERN/A
Swiss-ProtVAR_007755Polymorphismp.ILE21VALN/A
Swiss-ProtVAR_070464Polymorphismp.LEU147PHEN/A
Swiss-ProtVAR_035947Polymorphismp.LEU30PHEN/A
Swiss-ProtVAR_070473Polymorphismp.LEU668PHEN/A
Swiss-ProtVAR_035948Polymorphismp.LEU758PHEN/A
Swiss-ProtVAR_070489Polymorphismp.LEU1407PRON/A
Swiss-ProtVAR_070465Polymorphismp.LEU165PRON/A
Swiss-ProtVAR_063908Polymorphismp.LEU1764PRON/A
Swiss-ProtVAR_020704Polymorphismp.LEU1786PRON/A
Swiss-ProtVAR_070482Polymorphismp.LEU1267SERN/A
Swiss-ProtVAR_007756Diseasep.LEU22SERBreast cancer (BC)
Swiss-ProtVAR_007775Diseasep.LEU892SERBreast cancer (BC)
Swiss-ProtVAR_070471Polymorphismp.LEU246VALN/A
dbSNPrs16942 Polymorphismp.LYS1183ARGN/A
Swiss-ProtVAR_020693Diseasep.LYS1207ASNBreast cancer (BC)
Swiss-ProtVAR_008761Polymorphismp.LYS1406ASNN/A
dbSNPrs1800062 Polymorphismp.LYS38ASNN/A
Swiss-ProtVAR_020701Polymorphismp.LYS1690GLNN/A
Swiss-ProtVAR_070459Polymorphismp.LYS45GLNN/A
Swiss-ProtVAR_007790Polymorphismp.LYS1606GLUN/A
dbSNPrs56082113 Polymorphismp.LYS820GLUN/A
Swiss-ProtVAR_063904Polymorphismp.MET1689ARGN/A
Swiss-ProtVAR_007799Diseasep.MET1775ARGBreast cancer (BC)
Swiss-ProtVAR_007777Polymorphismp.MET1008ILEN/A
Swiss-ProtVAR_007795Polymorphismp.MET1652ILEN/A
Swiss-ProtVAR_063212Diseasep.MET1775LYSBreast cancer (BC)
Swiss-ProtVAR_020699Polymorphismp.MET1411THRN/A
Swiss-ProtVAR_007793Polymorphismp.MET1628THRN/A
Swiss-ProtVAR_063899Polymorphismp.MET18THRN/A
Swiss-ProtVAR_070488Polymorphismp.MET1400VALN/A
Swiss-ProtVAR_007792Polymorphismp.MET1628VALN/A
Swiss-ProtVAR_052080Polymorphismp.PHE1662CYSN/A
Swiss-ProtVAR_020696Diseasep.PHE1226LEUBreast-ovarian cancer, familial, 1 (BROVCA1)
Swiss-ProtVAR_007765Diseasep.PHE461LEUBreast cancer (BC)
Swiss-ProtVAR_020111Polymorphismp.PHE989SERN/A
Swiss-ProtVAR_007798Polymorphismp.PRO1749ARGN/A
Swiss-ProtVAR_070517Polymorphismp.PRO1812ARGN/A
Swiss-ProtVAR_070463Polymorphismp.PRO142HISN/A
Swiss-ProtVAR_007794Polymorphismp.PRO1637LEUN/A
Swiss-ProtVAR_070475Polymorphismp.PRO798LEUN/A
dbSNPrs799917 Polymorphismp.PRO871LEUN/A
Swiss-ProtVAR_007782Diseasep.PRO1150SERBreast cancer (BC)
Swiss-ProtVAR_008764Polymorphismp.PRO1776SERN/A
Swiss-ProtVAR_008765Polymorphismp.PRO1812SERN/A
Swiss-ProtVAR_008760Polymorphismp.PRO346SERN/A
Swiss-ProtVAR_070485Polymorphismp.SER1301ARGN/A
Swiss-ProtVAR_052077Polymorphismp.SER153ARGN/A
Swiss-ProtVAR_063906Polymorphismp.SER1715ARGN/A
Swiss-ProtVAR_007780Polymorphismp.SER1040ASNN/A
Swiss-ProtVAR_070479Polymorphismp.SER1101ASNN/A
Swiss-ProtVAR_070480Polymorphismp.SER1140ASNN/A
Swiss-ProtVAR_070491Polymorphismp.SER1486CYSN/A
dbSNPrs1799966 Polymorphismp.SER1613CYSN/A
Swiss-ProtVAR_019945Polymorphismp.SER1140GLYN/A
Swiss-ProtVAR_070490Polymorphismp.SER1448GLYN/A
Swiss-ProtVAR_007791Polymorphismp.SER1613GLYN/A
Swiss-ProtVAR_020689Polymorphismp.SER1139ILEN/A
Swiss-ProtVAR_020690Diseasep.SER1187ILEBreast-ovarian cancer, familial, 1 (BROVCA1)
Swiss-ProtVAR_007788Polymorphismp.SER1512ILEN/A
Swiss-ProtVAR_070494Polymorphismp.SER1651PHEN/A
Swiss-ProtVAR_070496Polymorphismp.SER1655PHEN/A
Swiss-ProtVAR_070458Polymorphismp.SER4PHEN/A
Swiss-ProtVAR_020698Polymorphismp.SER1297PRON/A
Swiss-ProtVAR_007786Polymorphismp.SER1431PRON/A
Swiss-ProtVAR_070495Polymorphismp.SER1651PRON/A
Swiss-ProtVAR_020695Diseasep.SER1217TYRBreast-ovarian cancer, familial, 1 (BROVCA1)
Swiss-ProtVAR_070467Polymorphismp.SER186TYRN/A
Swiss-ProtVAR_019946Polymorphismp.THR1620ALAN/A
Swiss-ProtVAR_063902Polymorphismp.THR1685ALAN/A
Swiss-ProtVAR_070504Polymorphismp.THR1720ALAN/A
Swiss-ProtVAR_007778Diseasep.THR1025ILEBreast cancer (BC)
Swiss-ProtVAR_007789Polymorphismp.THR1561ILEN/A
Swiss-ProtVAR_063903Polymorphismp.THR1685ILEN/A
Swiss-ProtVAR_070500Polymorphismp.THR1691ILEN/A
Swiss-ProtVAR_007772Polymorphismp.THR826LYSN/A
Swiss-ProtVAR_070469Polymorphismp.THR231METN/A
Swiss-ProtVAR_070518Polymorphismp.TRP1837ARGN/A
Swiss-ProtVAR_070503Polymorphismp.TRP1718CYSN/A
Swiss-ProtVAR_070513Polymorphismp.TRP1782CYSN/A
Swiss-ProtVAR_007766Diseasep.TYR465ASPBreast cancer (BC)
Swiss-ProtVAR_070461Polymorphismp.TYR105CYSN/A
Swiss-ProtVAR_020685Polymorphismp.TYR856HISN/A
Swiss-ProtVAR_007781Diseasep.VAL1047ALABreast cancer (BC)
Swiss-ProtVAR_007754Polymorphismp.VAL11ALAN/A
Swiss-ProtVAR_070506Polymorphismp.VAL1736ALAN/A
Swiss-ProtVAR_007770Polymorphismp.VAL772ALAN/A
Swiss-ProtVAR_070516Polymorphismp.VAL1804ASPN/A
Swiss-ProtVAR_007797Polymorphismp.VAL1713GLYN/A
Swiss-ProtVAR_070487Polymorphismp.VAL1378ILEN/A
Swiss-ProtVAR_070468Polymorphismp.VAL191ILEN/A
Swiss-ProtVAR_070472Polymorphismp.VAL271LEUN/A
Swiss-ProtVAR_070492Polymorphismp.VAL1534METN/A
Swiss-ProtVAR_020700Polymorphismp.VAL1665METN/A
Swiss-ProtVAR_007761Diseasep.VAL271METBreast cancer (BC)
OMIM113705.0037 Diseasep.ARG1648GLUBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0017 Diseasep.ARG1443GLYBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0034 Diseasep.ARG71GLYBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0012 Diseasep.ARG1203TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0016 Diseasep.ARG1443TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0022 Diseasep.ARG841TRPBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0002 Diseasep.CYS61GLYBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0001 Diseasep.CYS64GLYBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0013 Diseasep.GLU1250TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0035 Diseasep.MET1754ARGBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0036 Diseasep.MET1754LYSBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0011 Diseasep.SER1040ASNBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0007 Diseasep.SER766TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0009 Diseasep.SER915TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0019 Diseasep.TYR1832TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258