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.T234fs

c.700_701fs

Surrounding Variants

1 paper

NM_007294.4

p.T234S

c.700A>T

1 paper

NM_007294.4

p.T234insFs

c.701_702insTG

3 papers

NM_007294.4

p.T234K

c.701C>A

5 papers

NM_007294.4

p.T234delFs

c.700delT

NM_007297.4

p.T187delFs

c.559delT

1 paper

NM_007294.4

p.V233V

c.699A>T

1 paper

NM_007294.4

p.V233V

c.699A>G

10 papers

NM_007294.4

p.V233fs

c.697_698fs

21 papers

NM_007294.4

p.V233delFs

c.697_698delAC

3 papers

NM_007294.4

p.V233delFs

c.697delC

1 paper

NM_007294.4

p.V233delins

c.697_698delinsTA

3 papers

NM_007294.4

p.T234fs

c.700_701fs

1 paper

NM_007294.4

p.T234delFs

c.701delG