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

50 papers

NM_007294.4

p.D214G

c.641A>G

Surrounding Variants

4 papers

NM_007294.4

p.D214V

c.641A>T

1 paper

NM_007294.4

p.D214A

c.641A>C

2 papers

NM_007294.4

p.D214E

c.642T>G

1 paper

NM_007294.4

p.D214delFs

c.641delT

3 papers

NM_007294.4

p.D214Y

c.640G>T

1 paper

NM_007294.4

p.D214H

c.640G>C

4 papers

NM_007294.4

p.D214N

c.640G>A

3 papers

NM_007294.4

p.E215*

c.643G>T

3 papers

NM_007294.4

p.R213S

c.639G>T

1 paper

NM_007294.4

p.R213fs

c.637_638fs

3 papers

NM_007294.4

p.R213S

c.639G>C

3 papers

NM_007294.4

p.E215K

c.643G>A