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.D201G

c.602A>G

Surrounding Variants

1 paper

NM_007294.4

p.D201E

c.603T>A

1 paper

NM_007294.4

p.G200insFs

c.600dupA

4 papers

NM_007294.4

p.D201N

c.601G>A

6 papers

NM_007294.4

p.Q202*

c.604C>T

1 paper

NM_007294.4

p.Q202E

c.604C>G

1 paper

NM_007294.4

p.G200G

c.600A>T

2 papers

NM_007294.4

p.Q202fs

c.604_605fs

2 papers

NM_007294.4

p.G200V

c.599G>T

1 paper

NM_007294.4

p.G200E

c.599G>A

1 paper

NM_007294.4

p.Q202delFs

c.604delG

1 paper

NM_007294.4

p.G200*

c.598G>T

1 paper

NM_007294.4

p.V199_G200insFs

c.597_598ins4