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.I1568T

c.4703T>C

Surrounding Variants

1 paper

NM_007294.4

p.I1568S

c.4703T>G

2 papers

NM_007294.4

p.I1568I

c.4704C>T

1 paper

NM_007294.4

p.I1568_S1569insFs

c.4704_4705ins7

2 papers

NM_007294.4

p.I1568_S1569insFs

c.4704_4705ins7

1 paper

NM_007294.4

p.I1568fs

c.4702_4703fs

8 papers

NM_007294.4

p.I1568V

c.4702A>G

4 papers

NM_007294.4

p.S1569fs

c.4705_4706fs

1 paper

NM_007294.4

p.S1569C

c.4705A>T

1 paper

NM_007294.4

p.S1569G

c.4705A>G

1 paper

NM_007294.4

p.G1567insFs

c.4700_4701insGG

2 papers

NM_007294.4

p.S1569insFs

c.4705_4706ins7

1 paper

NM_007294.4

p.I1568delFs

c.4704delG