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.R315_S316insGG

c.943_947ins6

Surrounding Variants

1 paper

NM_007294.4

p.R315W

c.943A>T

6 papers

NM_007294.4

p.R315G

c.943A>G

1 paper

NM_007294.4

p.R315insFs

c.943_944ins10

1 paper

NM_007294.4

p.A314insFs

c.941dupC

1 paper

NM_007294.4

p.R315S

c.945G>T

2 papers

NM_007294.4

p.R315S

c.945G>C

2 papers

NM_007294.4

p.A314E

c.941C>A

1 paper

NM_007294.4

p.A314S

c.940G>T

2 papers

NM_007294.4

p.A314T

c.940G>A

35 papers

NM_007294.4

p.S316G

c.946A>G

3 papers

NM_007294.4

p.S316R

c.946A>C

1 paper

NM_007294.4

p.A314_R315del2

c.940_944del6