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

2 papers

NM_007294.4

p.V178V

c.534C>A

Surrounding Variants

1 paper

NM_007294.4

p.V178V

c.534C>T

1 paper

NM_007294.4

p.Y179insFs

c.535_536insAT

1 paper

NM_007294.4

p.V178insFs

c.532dupG

2 papers

NM_007294.4

p.Y179_I180insT

c.535_539ins3

1 paper

NM_007294.4

p.Y179D

c.535T>G

1 paper

NM_007294.4

p.V178G

c.533T>G

8 papers

NM_007294.4

p.Y179H

c.535T>C

3 papers

NM_007294.4

p.V178A

c.533T>C

5 papers

NM_007294.4

p.V178D

c.533T>A

1 paper

NM_007294.4

p.Y179N

c.535T>A

2 papers

NM_007294.4

p.V178F

c.532G>T

1 paper

NM_007294.4

p.S177insFs

c.531dupT