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

3 papers

NM_007294.4

p.H448Q

c.1344C>G

Surrounding Variants

1 paper

NM_007294.4

p.H448H

c.1344C>T

3 papers

NM_007294.4

p.H448fs

c.1342_1343fs

3 papers

NM_007294.4

p.H448Q

c.1344C>A

3 papers

NM_007294.4

p.H448delFs

c.1343delT

1 paper

NM_007294.4

p.S449insFs

c.1345_1346insGG

1 paper

NM_007294.4

p.S449_K450insTG

c.1345_1349ins6

1 paper

NM_007294.4

p.S449P

c.1345T>C

1 paper

NM_007294.4

p.S449fs

c.1345_1346fs

2 papers

NM_007294.4

p.H448R

c.1343A>G

1 paper

NM_007294.4

p.H448delFs

c.1342delG

1 paper

NM_007294.4

p.V447_H448del1

c.1340_1342delGAA

9 papers

NM_007294.4

p.H448Y

c.1342C>T