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.H1862Q

c.5586C>G

Surrounding Variants

1 paper

NM_007294.4

p.H1862H

c.5586C>T

1 paper

NM_007294.4

p.H1862Q

c.5586C>A

2 papers

NM_007294.4

p.H1862delins

c.5584_5586delinsTGA

3 papers

NM_007294.4

p.Y1863D

c.5587T>G

2 papers

NM_007294.4

p.Y1863H

c.5587T>C

14 papers

NM_007294.4

p.H1862L

c.5585A>T

1 paper

NM_007294.4

p.H1862R

c.5585A>G

2 papers

NM_007294.4

p.S1861insFs

c.5583dupC

2 papers

NM_007294.4

p.H1862delFs

c.5584delG

1 paper

NM_007294.4

p.P1856_H1862delFs

c.5566_5584del19

1 paper

NM_007294.4

p.Y1863F

c.5588A>T

2 papers

NM_007294.4

p.Y1863C

c.5588A>G