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

5 papers

NM_007294.4

p.E326G

c.977A>G

Surrounding Variants

4 papers

NM_007294.4

p.E326*

c.976G>T

1 paper

NM_007294.4

p.E326insFs

c.976_977insA

2 papers

NM_007294.4

p.E326Q

c.976G>C

3 papers

NM_007294.4

p.E326K

c.976G>A

1 paper

NM_007294.4

p.G323_S324delFs

c.969_972del4

1 paper

NM_007294.4

p.K325N

c.975G>T

1 paper

NM_007294.4

p.K325fs

c.973_974fs

1 paper

NM_007294.4

p.K325N

c.975G>C

1 paper

NM_007294.4

p.K325K

c.975G>A

2 papers

NM_007294.4

p.K325delFs

c.974delT

2 papers

NM_007294.4

p.T327S

c.979A>T

4 papers

NM_007294.4

p.T327A

c.979A>G