Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007294.4

p.I1019T

c.3056T>C

Surrounding Variants

1 paper

NM_007294.4

p.I1019fs

c.3055_3056fs

11 papers

NM_007294.4

p.I1019V

c.3055A>G

1 paper

NM_007294.4

p.P1020S

c.3058C>T

1 paper

NM_007294.4

p.N1018N

c.3054C>T

7 papers

NM_007294.4

p.N1018fs

c.3052_3053fs

2 papers

NM_007294.4

p.P1020fs

c.3058_3059fs

1 paper

NM_007294.4

p.P1020R

c.3059C>G

2 papers

NM_007294.4

p.S1007_P1020delFs

c.3021_3058del38

6 papers

NM_007294.4

p.N1018S

c.3053A>G

32 papers

NM_007294.4

p.N1016_N1018insFs

c.3048_3052dup5

9 papers

NM_007294.4

p.N1018fs

c.3052_3053fs

4 papers

NM_007294.4

p.P1020P

c.3060A>G