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.H816delFs

c.2447delT

Surrounding Variants

1 paper

NM_007294.4

p.G817insFs

c.2449_2450insAG

3 papers

NM_007294.4

p.G817S

c.2449G>A

1 paper

NM_007294.4

p.I815_H816delFs

c.2445_2448del4

1 paper

NM_007294.4

p.H816L

c.2447A>T

15 papers

NM_007294.4

p.H816R

c.2447A>G

1 paper

NM_007294.4

p.H816P

c.2447A>C

3 papers

NM_007294.4

p.H816ins1

c.2447_2448insGGA

1 paper

NM_007294.4

p.H816delFs

c.2446delG

1 paper

NM_007294.4

p.H816fs

c.2446_2447fs

1 paper

NM_007294.4

p.G817V

c.2450G>T

1 paper

NM_007294.4

p.G817D

c.2450G>A

1 paper

NM_007294.4

p.L814_G817delFs

c.2440_2449del10