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.V920insFs

c.2758_2759ins4

Surrounding Variants

3 papers

NM_007294.4

p.V920L

c.2758G>T

3 papers

NM_007294.4

p.V920L

c.2758G>C

14 papers

NM_007294.4

p.V920I

c.2758G>A

1 paper

NM_007294.4

p.V920fs

c.2758_2759fs

2 papers

NM_007294.4

p.P919_V920insFs

c.2755_2758dup4

1 paper

NM_007294.4

p.P919_V920insFs

c.2757_2758ins4

11 papers

NM_007294.4

p.V920A

c.2759T>C

1 paper

NM_007294.4

p.P919_V920delFs

c.2755_2758del4

1 paper

NM_007294.4

p.P919delFs

c.2756delG

1 paper

NM_007294.4

p.P919L

c.2756C>T

1 paper

NM_007294.4

p.E914_V920delFs

c.2740_2759del20

1 paper

NM_007294.4

p.P919fs

c.2755_2756fs