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

42 papers

NM_007294.4

p.R762S

c.2286A>C

Surrounding Variants

49 papers

NM_007294.4

p.R762S

c.2286A>T

2 papers

NM_007294.4

p.R762R

c.2286A>G

3 papers

NM_007294.4

p.R762fs

c.2284_2285fs

1 paper

NM_007294.4

p.S763fs

c.2287_2288fs

4 papers

NM_007294.4

p.R762delFs

c.2285_2286delTC

1 paper

NM_007294.4

p.T760_E761del2

c.2278_2282del6

2 papers

NM_007294.4

p.S763F

c.2288C>T

2 papers

NM_007294.4

p.S763C

c.2288C>G

1 paper

NM_007294.4

p.S763Y

c.2288C>A

1 paper

NM_007294.4

p.R762G

c.2284A>G

1 paper

NM_007294.4

p.R762fs

c.2284_2285fs

1 paper

NM_007294.4

p.T760_E761delFs

c.2278_2282del5