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.P968Q

c.2903C>A

Surrounding Variants

11 papers

NM_007294.4

p.T967insFs

c.2900_2901dupCT

1 paper

NM_007294.4

p.L965_T967del3

c.2893_2900del9

1 paper

NM_007294.4

p.P968S

c.2902C>T

1 paper

NM_007294.4

p.T967delFs

c.2901delA

1 paper

NM_007294.4

p.P968P

c.2904A>T

4 papers

NM_007294.4

p.P968fs

c.2902_2903fs

2 papers

NM_007294.4

p.P968delFs

c.2903delG

9 papers

NM_007294.4

p.P968fs

c.2902_2903fs

1 paper

NM_007294.4

p.T967_P968delFs

c.2900_2903del4

1 paper

NM_007294.4

p.T967_P968insFs

c.2901_2902insCT

1 paper

NM_007294.4

p.T967T

c.2901T>G

1 paper

NM_007294.4

p.N969fs

c.2905_2906fs