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.H1732delFs

c.5196delA

Surrounding Variants

11 papers

NM_007294.4

p.D1733Y

c.5197G>T

5 papers

NM_007294.4

p.D1733H

c.5197G>C

4 papers

NM_007294.4

p.D1733N

c.5197G>A

1 paper

NM_007294.4

p.H1732fs

c.5194_5195fs

3 papers

NM_007294.4

p.H1732Q

c.5196T>G

3 papers

NM_007294.4

p.H1732Q

c.5196T>A

7 papers

NM_007294.4

p.D1733V

c.5198A>T

39 papers

NM_007294.4

p.D1733G

c.5198A>G

NM_007300.4

p.D1754G

c.5261A>G

3 papers

NM_007294.4

p.D1733A

c.5198A>C

4 papers

NM_007294.4

p.D1733E

c.5199T>G

4 papers

NM_007294.4

p.D1733E

c.5199T>A

2 papers

NM_007294.4

p.D1733delFs

c.5197_5198delTC