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

2 papers

NM_007294.4

p.H279Q

c.837T>G

Surrounding Variants

1 paper

NM_007294.4

p.H279fs

c.835_836fs

6 papers

NM_007294.4

p.H279H

c.837T>C

3 papers

NM_007294.4

p.H279Q

c.837T>A

2 papers

NM_007294.4

p.N277_H279delFs

c.829_836del8

1 paper

NM_007294.4

p.A280P

c.838G>C

1 paper

NM_007294.4

p.H279L

c.836A>T

1 paper

NM_007294.4

p.H279R

c.836A>G

5 papers

NM_007294.4

p.H279P

c.836A>C

2 papers

NM_007294.4

p.H279insFs

c.835dupC

12 papers

NM_007294.4

p.H279delFs

c.835delG

8 papers

NM_007294.4

p.H279fs

c.835_836fs

2 papers

NM_007294.4

p.A280V

c.839C>T