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

10 papers

NM_007294.4

p.A1752E

c.5255C>A

Surrounding Variants

20 papers

NM_007294.4

p.A1752V

c.5255C>T

14 papers

NM_007294.4

p.A1752G

c.5255C>G

1 paper

NM_007294.4

p.A1752delFs

c.5254delC

4 papers

NM_007294.4

p.A1752S

c.5254G>T

44 papers

NM_007294.4

p.A1752P

c.5254G>C

20 papers

NM_007294.4

p.A1752T

c.5254G>A

1 paper

NM_007294.4

p.A1752A

c.5256A>T

1 paper

NM_007294.4

p.A1752A

c.5256A>C

4 papers

NM_007294.4

p.A1752insFs

c.5255dupC

1 paper

NM_007294.4

p.A1752fs

c.5254_5255fs

2 papers

NM_007294.4

p.R1753*

c.5257A>T

10 papers

NM_007294.4

p.R1753G

c.5257A>G