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

3 papers

NM_007294.4

p.D1533N

c.4597G>A

Surrounding Variants

2 papers

NM_007294.4

p.D1533fs

c.4597_4598fs

5 papers

NM_007294.4

p.D1533Y

c.4597G>T

1 paper

NM_007294.4

p.D1533H

c.4597G>C

1 paper

NM_007294.4

p.V1532delFs

c.4596delA

1 paper

NM_007294.4

p.V1532_D1533insFs

c.4596_4597insCT

2 papers

NM_007294.4

p.V1532V

c.4596T>C

2 papers

NM_007294.4

p.D1533V

c.4598A>T

2 papers

NM_007294.4

p.V1532insFs

c.4595_4596insCT

3 papers

NM_007294.4

p.D1533fs

c.4597_4598fs

1 paper

NM_007294.4

p.D1533delFs

c.4597_4598delTC

3 papers

NM_007294.4

p.V1532fs

c.4594_4595fs

3 papers

NM_007294.4

p.V1532F

c.4594G>T