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.G1710fs

c.5128_5129fs

Surrounding Variants

1 paper

NM_007294.4

p.G1710G

c.5130A>T

2 papers

NM_007294.4

p.G1710G

c.5130A>G

1 paper

NM_007294.4

p.G1710_K1711insFs

c.5130_5131insG

2 papers

NM_007294.4

p.G1710delFs

c.5129delC

2 papers

NM_007294.4

p.G1710V

c.5129G>T

3 papers

NM_007294.4

p.G1710A

c.5129G>C

11 papers

NM_007294.4

p.G1710E

c.5129G>A

7 papers

NM_007294.4

p.K1711*

c.5131A>T

7 papers

NM_007294.4

p.K1711E

c.5131A>G

12 papers

NM_007294.4

p.K1711Q

c.5131A>C

1 paper

NM_007294.4

p.G1710del1

c.5128_5130delTCC

3 papers

NM_007294.4

p.K1711fs

c.5131_5132fs