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Results for the Protein: P25054
97535708
324
APC

APC_HUMAN RecName: Full=Adenomatous polyposis coli protein; Short=Protein APC; AltName: Full=Deleted in polyposis 2.5

Known Diseases associated with this Protein:
  BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
  BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
  COLORECTAL CANCER, SOMATIC
  FAMILIAL ADENOMATOUS POLYPOSIS (FAP)
  FAMILIAL ADENOMATOUS POLYPOSIS 1
  FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED
  FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO
  GARDNER SYNDROME
  GARDNER SYNDROME, INCLUDED
  GASTRIC CANCER (GASC)
  GASTRIC CANCER, SOMATIC
  HEPATOBLASTOMA, SOMATIC
  MEDULLOBLASTOMA (MDB)
44
22
20
2
44
Tips:
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Default View:

Suppressor_APC - pfam11414
ARM - smart00185
ARM - cd00020
Arm - pfam00514
APC_15aa - pfam05972
APC_crr - pfam05923
SAMP - pfam05924
APC_basic - pfam05956
EB1_binding - pfam05937


Swiss-Prot Protein: P25054
Identical to: NP_001120982, NP_000029
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ARMcd000206.7e-28464597
ARMcd000201.1e-21605731
Armpfam005141.4e-05512553
Armpfam005140.00012556597
Armpfam005144.7e-10649689
Armpfam005141.8e-05691731
Suppressor_APCpfam114146.5e-40126208
ARMsmart001857.2e-09340392
ARMsmart001852e-09459510
ARMsmart001851.7e-06512553
ARMsmart001859.2e-10649689
APC_15aapfam059723.9e-0610201035
APC_15aapfam059728.4e-0511361151
APC_15aapfam059729.1e-0611551170
APC_15aapfam059724.3e-0611721187
APC_crrpfam059236.6e-1312561281
APC_crrpfam059231.9e-0913691394
APC_crrpfam059232.6e-0614851510
SAMPpfam059242.8e-0915691589
APC_crrpfam059238.5e-1116361661
SAMPpfam059242e-0817191738
APC_crrpfam059231.8e-1018401866
APC_crrpfam059233.6e-1019481973
APC_crrpfam059231.4e-1120062031
SAMPpfam059241.4e-0820342053
APC_basicpfam059566.5e-21622232579
EB1_bindingpfam059371.8e-12926702843

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009616Diseasep.ALA1184PROFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_017653Diseasep.ALA1296VALMedulloblastoma (MDB)
Swiss-ProtVAR_012976Polymorphismp.ALA1508VALN/A
Swiss-ProtVAR_008992Polymorphismp.ARG1171CYSN/A
Swiss-ProtVAR_005033Diseasep.ARG414CYSFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_005043Diseasep.ARG1171HISGastric cancer (GASC)
Swiss-ProtVAR_053977Polymorphismp.ARG1882THRN/A
Swiss-ProtVAR_005053Diseasep.ARG1348TRPFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_009613Diseasep.ARG99TRPFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_005041Polymorphismp.ASN1118ASPN/A
Swiss-ProtVAR_005039Diseasep.ASN942ASPGastric cancer (GASC)
Swiss-ProtVAR_005054Polymorphismp.ASP1422HISN/A
Swiss-ProtVAR_009617Polymorphismp.GLU1317GLNN/A
Swiss-ProtVAR_009615Polymorphismp.GLU1057GLYN/A
Swiss-ProtVAR_005038Diseasep.GLU911GLYFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_005035Diseasep.GLY817CYSGastric cancer (GASC)
Swiss-ProtVAR_005042Diseasep.GLY1120GLUGastric cancer (GASC)
Swiss-ProtVAR_005050Diseasep.GLY1312GLUGastric cancer (GASC)
dbSNPrs2229995 Polymorphismp.GLY2502SERN/A
Swiss-ProtVAR_005049Polymorphismp.ILE1307LYSN/A
Swiss-ProtVAR_035794Polymorphismp.ILE1254PHEN/A
Swiss-ProtVAR_005046Diseasep.ILE1259THRGastric cancer (GASC)
Swiss-ProtVAR_008994Polymorphismp.ILE2738THRN/A
Swiss-ProtVAR_005036Diseasep.ILE880THRGastric cancer (GASC)
Swiss-ProtVAR_005048Polymorphismp.ILE1304VALN/A
Swiss-ProtVAR_005057Diseasep.LEU2839PHEFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_005045Diseasep.PHE1197SERGastric cancer (GASC)
Swiss-ProtVAR_005044Diseasep.PRO1176LEUFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_053976Polymorphismp.PRO870SERN/A
Swiss-ProtVAR_065133Polymorphismp.SER1395CYSN/A
Swiss-ProtVAR_005056Diseasep.SER2621CYSFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_017655Diseasep.SER1495GLYMedulloblastoma (MDB)
Swiss-ProtVAR_009614Diseasep.SER722GLYFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_005032Diseasep.SER171ILEFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_020142Polymorphismp.SER1973THRN/A
Swiss-ProtVAR_005034Diseasep.SER784THRFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_005037Polymorphismp.SER906TYRN/A
Swiss-ProtVAR_005051Diseasep.THR1313ALAFamilial adenomatous polyposis (FAP)
Swiss-ProtVAR_005047Polymorphismp.THR1292METN/A
Swiss-ProtVAR_020141Polymorphismp.THR1496SERN/A
Swiss-ProtVAR_005040Polymorphismp.TYR1027CYSN/A
Swiss-ProtVAR_005052Diseasep.VAL1326ALAGastric cancer (GASC)
dbSNPrs459552 Polymorphismp.VAL1822ASPN/A
Swiss-ProtVAR_017654Diseasep.VAL1472ILEMedulloblastoma (MDB)
Swiss-ProtVAR_012975Polymorphismp.VAL890ILEN/A
Swiss-ProtVAR_053978Polymorphismp.VAL2499LEUN/A
OMIM611731.0005 Diseasep.ARG414CYSGARDNER SYNDROME
OMIM611731.0006 Diseasep.ARG302TERFAMILIAL ADENOMATOUS POLYPOSIS 1||GARDNER SYNDROME, INCLUDED
OMIM611731.0031 Diseasep.ARG499TERGARDNER SYNDROME
OMIM611731.0015 Diseasep.ARG554TERFAMILIAL ADENOMATOUS POLYPOSIS 1
OMIM611731.0016 Diseasep.ARG564TERFAMILIAL ADENOMATOUS POLYPOSIS 1
OMIM611731.0011 Diseasep.GLN1067TERGASTRIC CANCER, SOMATIC
OMIM611731.0009 Diseasep.GLN1338TERCOLORECTAL CANCER, SOMATIC
OMIM611731.0047 Diseasep.GLN208TERGARDNER SYNDROME
OMIM611731.0022 Diseasep.GLN215TERFAMILIAL ADENOMATOUS POLYPOSIS 1||BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
OMIM611731.0014 Diseasep.GLN541TERFAMILIAL ADENOMATOUS POLYPOSIS 1||BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
OMIM611731.0036 Diseasep.GLU1317GLNFAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED
OMIM611731.0010 Diseasep.GLY1120GLUGASTRIC CANCER, SOMATIC
OMIM611731.0029 Diseasep.ILE1307LYSFAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO||BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
OMIM611731.0039 Diseasep.LEU698TERGARDNER SYNDROME
OMIM611731.0024 Diseasep.SER1395CYSHEPATOBLASTOMA, SOMATIC
OMIM611731.0007 Diseasep.SER280TERGARDNER SYNDROME
OMIM611731.0008 Diseasep.SER713TERGARDNER SYNDROME
OMIM611731.0021 Diseasep.TRP157TERFAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED
OMIM611731.0032 Diseasep.TYR486TERFAMILIAL ADENOMATOUS POLYPOSIS 1
OMIM611731.0018 Diseasep.TYR935TERFAMILIAL ADENOMATOUS POLYPOSIS 1



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