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Results for the Protein: NP_009229
237681123
672

breast cancer type 1 susceptibility protein isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
14
4
14
4
0
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Default View:

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


RefSeq Protein: NP_009229
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRCTcd000276.4e-12545620
BRCTcd000275.3e-11659739
zf-C3HC4pfam000971.2e-112464
BRCTpfam005336e-11538619
BRCTpfam005334e-12652738
RINGsmart001844.6e-122464
BRCTsmart002927e-07541622
BRCTsmart002929.2e-15655741

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4986849 Polymorphismp.ARG340GLNN/A
dbSNPrs201196020 Polymorphismp.HIS756PRON/A
dbSNPrs1800062 Polymorphismp.LYS38ASNN/A
dbSNPrs1799966 Polymorphismp.SER509CYSN/A
OMIM113705.0037 Diseasep.ARG544GLUBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0017 Diseasep.ARG340GLYBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0034 Diseasep.ARG71GLYBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0012 Diseasep.ARG1TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0016 Diseasep.ARG340TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0022 Diseasep.ARG1TRPBREAST-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.GLU1TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0035 Diseasep.MET650ARGBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0036 Diseasep.MET650LYSBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0011 Diseasep.SER1ASNBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0007 113705.0009 Diseasep.SER1TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM113705.0019 Diseasep.TYR728TERBREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1



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