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.G1048S

c.3142G>A

Surrounding Variants

4 papers

NM_007294.4

p.G1048fs

c.3142_3143fs

12 papers

NM_007294.4

p.G1048V

c.3143G>T

1 paper

NM_007294.4

p.G1048A

c.3143G>C

26 papers

NM_007294.4

p.G1048D

c.3143G>A

3 papers

NM_007294.4

p.V1047V

c.3141A>G

2 papers

NM_007294.4

p.V1047insFs

c.3139_3140dupGT

2 papers

NM_007294.4

p.G1048fs

c.3142_3143fs

1 paper

NM_007294.4

p.G1048G

c.3144T>C

1 paper

NM_007294.4

p.V1047A

c.3140T>C

15 papers

NM_007294.4

p.G1048delFs

c.3143delC

1 paper

NM_007294.4

p.V1047delFs

c.3139delC

1 paper

NM_007294.4

p.V1047I

c.3139G>A