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.H1006N

c.3016C>A

Surrounding Variants

18 papers

NM_007294.4

p.H1006fs

c.3016_3017fs

1 paper

NM_007294.4

p.E1005delFs

c.3015delT

1 paper

NM_007294.4

p.H1006insFs

c.3016_3017insC

1 paper

NM_007294.4

p.E1005fs

c.3013_3014fs

3 papers

NM_007294.4

p.H1006delFs

c.3016delG

4 papers

NM_007294.4

p.H1006fs

c.3016_3017fs

1 paper

NM_007294.4

p.H1006Q

c.3018T>G

1 paper

NM_007294.4

p.H1006Q

c.3018T>A

1 paper

NM_007294.4

p.E1005V

c.3014A>T

1 paper

NM_007294.4

p.E1005A

c.3014A>C

11 papers

NM_007294.4

p.E1005delFs

c.3013delC

1 paper

NM_007294.4

p.S1007insFs

c.3019_3020insCT