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

11 papers

NM_007294.4

p.K651_K652insFs

c.1953_1954insA

Surrounding Variants

1 paper

NM_007294.4

p.K651N

c.1953G>T

3 papers

NM_007294.4

p.K651fs

c.1951_1952fs

1 paper

NM_007294.4

p.K651N

c.1953G>C

1 paper

NM_007294.4

p.K651K

c.1953G>A

2 papers

NM_007294.4

p.K651delFs

c.1952delT

1 paper

NM_007294.4

p.K652*

c.1954A>T

2 papers

NM_007294.4

p.K651R

c.1952A>G

1 paper

NM_007294.4

p.K652E

c.1954A>G

25 papers

NM_007294.4

p.K651insFs

c.1953dupG

4 papers

NM_007294.4

p.K651insFs

c.1952_1953insG

1 paper

NM_007294.4

p.K651_K652delins

c.1953_1954delinsTT

5 papers

NM_007294.4

p.K651delFs

c.1953delC