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

16 papers

NM_007294.4

p.P586delFs

c.1757delG

Surrounding Variants

3 papers

NM_007294.4

p.P586insFs

c.1756_1757insC

1 paper

NM_007294.4

p.P586fs

c.1756_1757fs

1 paper

NM_007294.4

p.P586delFs

c.1756_1757delGG

1 paper

NM_007294.4

p.P586L

c.1757C>T

4 papers

NM_007294.4

p.P586R

c.1757C>G

1 paper

NM_007294.4

p.A584_E585delFs

c.1751_1755del5

4 papers

NM_007294.4

p.I587V

c.1759A>G

1 paper

NM_007294.4

p.P586insFs

c.1758dupT

1 paper

NM_007294.4

p.I587T

c.1760T>C

9 papers

NM_007294.4

p.P586fs

c.1756_1757fs

1 paper

NM_007294.4

p.I587delFs

c.1759delT

1 paper

NM_007294.4

p.E585_I587delFs

c.1755_1759del5