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.D341Y

c.1021G>T

Surrounding Variants

1 paper

NM_007294.4

p.D341H

c.1021G>C

10 papers

NM_007294.4

p.D341N

c.1021G>A

2 papers

NM_007294.4

p.D341G

c.1022A>G

1 paper

NM_007294.4

p.V340V

c.1020A>C

1 paper

NM_007294.4

p.D341insFs

c.1022_1023insC

17 papers

NM_007294.4

p.V340fs

c.1018_1019fs

1 paper

NM_007294.4

p.D341delFs

c.1021delC

1 paper

NM_007294.4

p.V340insFs

c.1018dupG

1 paper

NM_007294.4

p.D341E

c.1023T>G

1 paper

NM_007294.4

p.V340G

c.1019T>G

3 papers

NM_007294.4

p.V340A

c.1019T>C

1 paper

NM_007294.4

p.D341D

c.1023T>C