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.S588delins

c.1763_1764delinsAA

Surrounding Variants

2 papers

NM_007294.4

p.S588R

c.1764C>G

2 papers

NM_007294.4

p.S588R

c.1764C>A

3 papers

NM_007294.4

p.S588delins

c.1763_1764delinsTT

1 paper

NM_007294.4

p.S588delFs

c.1762_1763delCT

1 paper

NM_007294.4

p.I587_S588delFs

c.1759_1763del5

3 papers

NM_007294.4

p.S588I

c.1763G>T

2 papers

NM_007294.4

p.S588insFs

c.1762dupA

1 paper

NM_007294.4

p.S588T

c.1763G>C

1 paper

NM_007294.4

p.S588N

c.1763G>A

2 papers

NM_007294.4

p.S588delFs

c.1762delT

1 paper

NM_007294.4

p.I587_S588delFs

c.1759_1762del4

4 papers

NM_007294.4

p.S589C

c.1765A>T