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.N1626D

c.4876A>G

Surrounding Variants

3 papers

NM_007294.4

p.N1626fs

c.4876_4877fs

1 paper

NM_007294.4

p.N1626H

c.4876A>C

1 paper

NM_007294.4

p.Y1625fs

c.4873_4874fs

2 papers

NM_007294.4

p.Y1625*

c.4875T>G

3 papers

NM_007294.4

p.Y1625*

c.4875T>A

3 papers

NM_007294.4

p.N1626S

c.4877A>G

1 paper

NM_007294.4

p.N1626fs

c.4876_4877fs

3 papers

NM_007294.4

p.N1626delFs

c.4877delT

1 paper

NM_007294.4

p.Y1625C

c.4874A>G

1 paper

NM_007294.4

p.Y1625_N1626insA

c.4873_4877ins3

1 paper

NM_007294.4

p.Y1625H

c.4873T>C

1 paper

NM_007294.4

p.G1624delFs

c.4872delC