Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q99728
116241265
580

BARD1_HUMAN RecName: Full=BRCA1-associated RING domain protein 1; Short=BARD-1

Known Diseases associated with this Protein:
  BREAST CANCER, SUSCEPTIBILITY TO
1
13
1
7
6
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
Arp - COG0666
ANK - cd00204
Ank - pfam00023
ANK - smart00248
BRCT - pfam00533
BRCT - smart00292
BRCT - cd00027


Swiss-Prot Protein: Q99728
Identical to: NP_000456
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RINGcd001628.3e-054990
ArpCOG06665.8e-17359583
ANKcd002049.2e-36422544
BRCTcd000273.1e-13568641
BRCTcd000278.6e-13674768
Ankpfam000231.9e-07427459
Ankpfam000236.5e-08460492
Ankpfam000236.9e-09493525
BRCTpfam005330.0006561640
ANKsmart002481.9e-05427456
ANKsmart002482.2e-07460489
ANKsmart002486.6e-08493522
BRCTsmart002923e-11561643
BRCTsmart002922.7e-11670770

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3738888 Polymorphismp.ARG658CYSN/A
dbSNPrs2229571 Polymorphismp.ARG378SERN/A
dbSNPrs2228456 Polymorphismp.CYS645ARGN/A
dbSNPrs28997576 Polymorphismp.CYS557SERN/A
Swiss-ProtVAR_010358Polymorphismp.GLN564HISN/A
Swiss-ProtVAR_010355Polymorphismp.LYS153GLUN/A
dbSNPrs1048108 Polymorphismp.PRO24SERN/A
Swiss-ProtVAR_010361Polymorphismp.SER761ASNN/A
dbSNPrs3738885 Polymorphismp.SER241CYSN/A
Swiss-ProtVAR_038371Polymorphismp.SER186GLYN/A
Swiss-ProtVAR_028309Polymorphismp.SER728PHEN/A
Swiss-ProtVAR_010360Polymorphismp.VAL695LEUN/A
dbSNPrs2070094 Polymorphismp.VAL507METN/A
OMIM601593.0001 Diseasep.CYS557SERBREAST CANCER, SUSCEPTIBILITY TO



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