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.K309insFs

c.925_926insT

Surrounding Variants

1 paper

NM_007294.4

p.K309*

c.925A>T

3 papers

NM_007294.4

p.K309E

c.925A>G

3 papers

NM_007294.4

p.K309Q

c.925A>C

1 paper

NM_007294.4

p.S308_K309insFs

c.924_925insC

1 paper

NM_007294.4

p.S308delFs

c.924delG

11 papers

NM_007294.4

p.S308delFs

c.923_924delGC

1 paper

NM_007294.4

p.S308R

c.924C>G

14 papers

NM_007294.4

p.S308fs

c.922_923fs

1 paper

NM_007294.4

p.S308R

c.924C>A

6 papers

NM_007294.4

p.S308delFs

c.923delC

36 papers

NM_007294.4

p.S308Fs

c.922_924delinsTFs

8 papers

NM_007294.4

p.S308delFs

c.922_923delCT