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

1 paper

NM_007294.4

p.T212S

c.635C>G

Surrounding Variants

2 papers

NM_007294.4

p.T212I

c.635C>T

1 paper

NM_007294.4

p.T212N

c.635C>A

1 paper

NM_007294.4

p.T212T

c.636C>G

1 paper

NM_007294.4

p.T212T

c.636C>A

1 paper

NM_007294.4

p.T212delFs

c.634_635delGT

1 paper

NM_007294.4

p.T212S

c.634A>T

3 papers

NM_007294.4

p.T212A

c.634A>G

1 paper

NM_007294.4

p.Q210_G211del2

c.628_632del6

2 papers

NM_007294.4

p.G211G

c.633A>T

1 paper

NM_007294.4

p.R213W

c.637A>T

9 papers

NM_007294.4

p.R213G

c.637A>G

1 paper

NM_007294.4

p.G211G

c.633A>G