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

1 paper

NM_007294.4

p.A344delFs

c.1032delA

Surrounding Variants

11 papers

NM_007294.4

p.D345Y

c.1033G>T

1 paper

NM_007294.4

p.D345insFs

c.1033_1034insA

1 paper

NM_007294.4

p.D345N

c.1033G>A

1 paper

NM_007294.4

p.N343_A344del0

c.1027_1032del6

2 papers

NM_007294.4

p.A344A

c.1032T>C

2 papers

NM_007294.4

p.D345G

c.1034A>G

1 paper

NM_007294.4

p.D345insFs

c.1034_1035insC

1 paper

NM_007294.4

p.A344_D345delFs

c.1032_1033delCA

1 paper

NM_007294.4

p.A344_D345del1

c.1031_1033delCAG

1 paper

NM_007294.4

p.D345E

c.1035T>G

2 papers

NM_007294.4

p.D345E

c.1035T>A

1 paper

NM_007294.4

p.A344V

c.1031C>T