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.K325fs

c.973_974fs

Surrounding Variants

1 paper

NM_007294.4

p.K325E

c.973A>G

1 paper

NM_007294.4

p.S324fs

c.970_971fs

1 paper

NM_007294.4

p.S324delFs

c.971delC

3 papers

NM_007294.4

p.K325R

c.974A>G

3 papers

NM_007294.4

p.S324I

c.971G>T

1 paper

NM_007294.4

p.K325N

c.975G>T

1 paper

NM_007294.4

p.S324insFs

c.971_972insAT

1 paper

NM_007294.4

p.K325fs

c.973_974fs

2 papers

NM_007294.4

p.G323insFs

c.969dupA

1 paper

NM_007294.4

p.K325N

c.975G>C

1 paper

NM_007294.4

p.K325K

c.975G>A

1 paper

NM_007294.4

p.S324N

c.971G>A