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.A1708insFs

c.5123dupC

Surrounding Variants

1 paper

NM_007294.4

p.A1708A

c.5124G>T

6 papers

NM_007294.4

p.A1708A

c.5124G>A

1 paper

NM_007294.4

p.A1708delFs

c.5123delG

2 papers

NM_007294.4

p.G1709*

c.5125G>T

1 paper

NM_007294.4

p.G1709insFs

c.5125_5126insC

9 papers

NM_007294.4

p.G1709R

c.5125G>C

16 papers

NM_007294.4

p.G1709R

c.5125G>A

55 papers

NM_007294.4

p.A1708V

c.5123C>T

13 papers

NM_007294.4

p.A1708G

c.5123C>G

378 papers

NM_007294.4

p.A1708E

c.5123C>A

NM_007300.4

p.A1729E

c.5186C>A

2 papers

NM_007294.4

p.G1706_I1707del2

c.5116_5120del6

1 paper

NM_007294.4

p.G1709fs

c.5125_5126fs