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.A221G

c.662C>G

Surrounding Variants

2 papers

NM_007294.4

p.A221V

c.662C>T

3 papers

NM_007294.4

p.D219_A221delFs

c.657_661del5

1 paper

NM_007294.4

p.D219_S220del2

c.655_659del6

11 papers

NM_007294.4

p.A221S

c.661G>T

1 paper

NM_007294.4

p.S220_A221ins16

c.660_661ins48

1 paper

NM_007294.4

p.A221T

c.661G>A

21 papers

NM_007294.4

p.S220delFs

c.658_659delGA

3 papers

NM_007294.4

p.A221A

c.663A>C

1 paper

NM_007294.4

p.A221delFs

c.661_662delGC

2 papers

NM_007294.4

p.S220fs

c.658_659fs

4 papers

NM_007294.4

p.K222*

c.664A>T

1 paper

NM_007294.4

p.K222E

c.664A>G