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

2 papers

NM_007294.4

p.S289fs

c.865_866fs

Surrounding Variants

1 paper

NM_007294.4

p.S289C

c.865A>T

3 papers

NM_007294.4

p.S289G

c.865A>G

34 papers

NM_007294.4

p.S289R

c.865A>C

1 paper

NM_007294.4

p.S288delFs

c.864delG

1 paper

NM_007294.4

p.N287_S288delFs

c.861_864del4

2 papers

NM_007294.4

p.Q284_S288del5

c.850_863del15

2 papers

NM_007294.4

p.S289I

c.866G>T

1 paper

NM_007294.4

p.S289T

c.866G>C

1 paper

NM_007294.4

p.S289N

c.866G>A

1 paper

NM_007294.4

p.N287_S288del2

c.859_863del6

1 paper

NM_007294.4

p.H285_S289delFs

c.855_865del11

2 papers

NM_007294.4

p.S288R

c.864C>G