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

18 papers

NM_007294.4

p.G1656D

c.4967G>A

Surrounding Variants

8 papers

NM_007294.4

p.G1656V

c.4967G>T

9 papers

NM_007294.4

p.G1656A

c.4967G>C

NM_007300.4

p.G1677A

c.5030G>C

8 papers

NM_007294.4

p.G1656C

c.4966G>T

8 papers

NM_007294.4

p.G1656R

c.4966G>C

8 papers

NM_007294.4

p.G1656S

c.4966G>A

1 paper

NM_007294.4

p.S1655delFs

c.4965delA

4 papers

NM_007294.4

p.G1656_L1657insFs

c.4968_4969insGT

1 paper

NM_007294.4

p.G1656fs

c.4966_4967fs

2 papers

NM_007294.4

p.S1655insFs

c.4964dupC

21 papers

NM_007294.4

p.S1655fs

c.4963_4964fs

1 paper

NM_007294.4

p.S1655Fs

c.4965delinsGAFs

6 papers

NM_007294.4

p.L1657V

c.4969C>G