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

53 papers

NM_007294.4

p.K894delFs

c.2681_2682delTT

Surrounding Variants

11 papers

NM_007294.4

p.Q895*

c.2683C>T

2 papers

NM_007294.4

p.Q895_S896ins4

c.2683_2687ins12

36 papers

NM_007294.4

p.L892_K893delFs

c.2676_2679del4

1 paper

NM_007294.4

p.K894N

c.2682A>T

1 paper

NM_007294.4

p.Q895P

c.2684A>C

1 paper

NM_007294.4

p.K894N

c.2682A>C

1 paper

NM_007294.4

p.K894_Q895insFs

c.2682_2683insGC

24 papers

NM_007294.4

p.K894fs

c.2680_2681fs

1 paper

NM_007294.4

p.Q895Q

c.2685A>G

1 paper

NM_007294.4

p.K894R

c.2681A>G

2 papers

NM_007294.4

p.K894insFs

c.2681_2682insGC

4 papers

NM_007294.4

p.Q895fs

c.2683_2684fs