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.A678T

c.2032G>A

Surrounding Variants

1 paper

NM_007294.4

p.A678S

c.2032G>T

1 paper

NM_007294.4

p.P674_G677insFs

c.2022_2031dup10

2 papers

NM_007294.4

p.A678fs

c.2032_2033fs

3 papers

NM_007294.4

p.A678V

c.2033C>T

1 paper

NM_007294.4

p.G677fs

c.2029_2030fs

1 paper

NM_007294.4

p.G677V

c.2030G>T

2 papers

NM_007294.4

p.G677E

c.2030G>A

1 paper

NM_007294.4

p.G677delins

c.2029_2030delinsTT

3 papers

NM_007294.4

p.T676_G677delFs

c.2028_2029delCA

1 paper

NM_007294.4

p.E673_T676del4

c.2017_2027del12

1 paper

NM_007294.4

p.A678A

c.2034C>G

2 papers

NM_007294.4

p.A678_K679insFs

c.2034_2035insA