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.P273_C274del2

c.817_821del6

Surrounding Variants

1 paper

NM_007294.4

p.G275C

c.823G>T

1 paper

NM_007294.4

p.G275_T276ins4

c.823_827ins12

2 papers

NM_007294.4

p.G275R

c.823G>C

30 papers

NM_007294.4

p.G275S

c.823G>A

1 paper

NM_007294.4

p.C274C

c.822T>C

8 papers

NM_007294.4

p.C274*

c.822T>A

4 papers

NM_007294.4

p.G275insFs

c.824_825ins10

6 papers

NM_007294.4

p.G275insFs

c.824_825ins10

52 papers

NM_007294.4

p.G275D

c.824G>A

1 paper

NM_007294.4

p.C274S

c.821G>C

4 papers

NM_007294.4

p.C274Y

c.821G>A

6 papers

NM_007294.4

p.G275G

c.825C>T