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

4 papers

NM_007294.4

p.T161A

c.481A>G

Surrounding Variants

1 paper

NM_007294.4

p.T161S

c.481A>T

1 paper

NM_007294.4

p.T161P

c.481A>C

7 papers

NM_007294.4

p.T161I

c.482C>T

1 paper

NM_007294.4

p.T161S

c.482C>G

4 papers

NM_007294.4

p.G160G

c.480A>G

1 paper

NM_007294.4

p.L159_T161insFs

c.475_482dup8

4 papers

NM_007294.4

p.T161T

c.483T>G

2 papers

NM_007294.4

p.T161T

c.483T>A

2 papers

NM_007294.4

p.G160V

c.479G>T

2 papers

NM_007294.4

p.G160A

c.479G>C

5 papers

NM_007294.4

p.V162L

c.484G>T

1 paper

NM_007294.4

p.G160*

c.478G>T