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.D232insFs

c.695_696insT

Surrounding Variants

1 paper

NM_007294.4

p.D232V

c.695A>T

2 papers

NM_007294.4

p.D232G

c.695A>G

2 papers

NM_007294.4

p.T231delFs

c.693delC

1 paper

NM_007294.4

p.D232D

c.696T>C

1 paper

NM_007294.4

p.D232E

c.696T>A

1 paper

NM_007294.4

p.D232fs

c.694_695fs

4 papers

NM_007294.4

p.D232Y

c.694G>T

3 papers

NM_007294.4

p.D232H

c.694G>C

15 papers

NM_007294.4

p.D232N

c.694G>A

1 paper

NM_007294.4

p.T231del1

c.691_692delCGT

8 papers

NM_007294.4

p.T231T

c.693G>T

1 paper

NM_007294.4

p.D232_V233insFs

c.696_697insT