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.S1423R

c.4269C>A

Surrounding Variants

2 papers

NM_007294.4

p.S1423R

c.4269C>G

3 papers

NM_007294.4

p.S1423I

c.4268G>T

4 papers

NM_007294.4

p.S1423N

c.4268G>A

10 papers

NM_007294.4

p.Q1424*

c.4270C>T

1 paper

NM_007294.4

p.S1423fs

c.4267_4268fs

3 papers

NM_007294.4

p.Q1424R

c.4271A>G

1 paper

NM_007294.4

p.S1423G

c.4267A>G

2 papers

NM_007294.4

p.S1423R

c.4267A>C

1 paper

NM_007294.4

p.Q1424P

c.4271A>C

3 papers

NM_007294.4

p.G1422insFs

c.4266dupG

1 paper

NM_007294.4

p.G1422delFs

c.4266delC

1 paper

NM_007298.4

p.Q321delFs

c.961delG