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

37 papers

NM_007294.4

p.A1789T

c.5365G>A

NM_007300.4

p.A1810T

c.5428G>A

Surrounding Variants

5 papers

NM_007294.4

p.A1789fs

c.5365_5366fs

20 papers

NM_007294.4

p.A1789S

c.5365G>T

5 papers

NM_007294.4

p.A1789P

c.5365G>C

1 paper

NM_007294.4

p.G1788insFs

c.5363dupG

1 paper

NM_007294.4

p.G1788delFs

c.5363delC

4 papers

NM_007294.4

p.A1789V

c.5366C>T

2 papers

NM_007294.4

p.A1789G

c.5366C>G

1 paper

NM_007294.4

p.A1789insFs

c.5366_5367insT

2 papers

NM_007294.4

p.A1789D

c.5366C>A

5 papers

NM_007294.4

p.A1789Fs

c.5365_5366delinsAFs

1 paper

NM_007294.4

p.A1789insFs

c.5366dupC

4 papers

NM_007300.4

p.A1810delFs

c.5429delG

NM_007294.4

p.A1789delFs

c.5366delG