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

24 papers

NM_007294.4

p.L512F

c.1534C>T

Surrounding Variants

1 paper

NM_007294.4

p.L512fs

c.1534_1535fs

14 papers

NM_007294.4

p.L512V

c.1534C>G

1 paper

NM_007294.4

p.L512_H513insT

c.1534_1538ins3

2 papers

NM_007294.4

p.L512insFs

c.1535_1536ins4

3 papers

NM_007294.4

p.L512delFs

c.1534delG

1 paper

NM_007294.4

p.P508_G511del0

c.1522_1533del12

2 papers

NM_007294.4

p.G511G

c.1533C>G

1 paper

NM_007294.4

p.G511insFs

c.1532dupG

3 papers

NM_007294.4

p.G511fs

c.1531_1532fs

2 papers

NM_007294.4

p.G511G

c.1533C>A

2 papers

NM_007294.4

p.G511delFs

c.1531delC

1 paper

NM_007294.4

p.L512insFs

c.1535_1536insTA