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

11 papers

NM_007294.4

p.C39*

c.117T>A

Surrounding Variants

3 papers

NM_007294.4

p.C39fs

c.115_116fs

19 papers

NM_007294.4

p.C39W

c.117T>G

2 papers

NM_007294.4

p.C39C

c.117T>C

18 papers

NM_007294.4

p.C39F

c.116G>T

5 papers

NM_007294.4

p.D40Y

c.118G>T

1 paper

NM_007294.4

p.C39insFs

c.117dupT

1 paper

NM_007294.4

p.D40_H41insG

c.118_122ins3

30 papers

NM_007294.4

p.C39S

c.116G>C

5 papers

NM_007294.4

p.D40H

c.118G>C

87 papers

NM_007294.4

p.C39Y

c.116G>A

12 papers

NM_007294.4

p.D40N

c.118G>A

1 paper

NM_007294.4

p.C39delFs

c.115delA