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.G1055insFs

c.3164dupG

Surrounding Variants

1 paper

NM_007294.4

p.G1055fs

c.3163_3164fs

2 papers

NM_007294.4

p.G1055G

c.3165C>A

3 papers

NM_007294.4

p.G1055delFs

c.3164delC

2 papers

NM_007294.4

p.S1056P

c.3166T>C

1 paper

NM_007294.4

p.G1055delFs

c.3164_3165delGC

2 papers

NM_007294.4

p.G1055V

c.3164G>T

1 paper

NM_007294.4

p.G1055C

c.3163G>T

5 papers

NM_007294.4

p.G1055S

c.3163G>A

6 papers

NM_007294.4

p.S1056F

c.3167C>T

4 papers

NM_007294.4

p.S1056C

c.3167C>G

1 paper

NM_007294.4

p.S1056insFs

c.3166_3167insT

1 paper

NM_007294.4

p.S1056insFs

c.3166_3167ins5