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

4 papers

NM_007294.4

p.N714fs

c.2140_2141fs

Surrounding Variants

1 paper

NM_007294.4

p.N714D

c.2140A>G

2 papers

NM_007294.4

p.S713insFs

c.2138_2139dupCA

2 papers

NM_007294.4

p.S713del1

c.2137_2138delTGA

1 paper

NM_007294.4

p.N714S

c.2141A>G

1 paper

NM_007294.4

p.S713S

c.2139A>G

1 paper

NM_007294.4

p.N714fs

c.2140_2141fs

1 paper

NM_007294.4

p.N714insFs

c.2141dupA

49 papers

NM_007294.4

p.S713*

c.2138C>G

44 papers

NM_007294.4

p.S713*

c.2138C>A

2 papers

NM_007294.4

p.T715fs

c.2143_2144fs

1 paper

NM_007294.4

p.T715S

c.2143A>T

1 paper

NM_007294.4

p.T715A

c.2143A>G