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.K109*

c.325A>T

Surrounding Variants

1 paper

NM_007294.4

p.K109fs

c.325_326fs

1 paper

NM_007294.4

p.K109I

c.326A>T

1 paper

NM_007294.4

p.A108A

c.324A>T

9 papers

NM_007294.4

p.K109R

c.326A>G

1 paper

NM_007294.4

p.A108fs

c.322_323fs

2 papers

NM_007294.4

p.A108V

c.323C>T

1 paper

NM_007294.4

p.A108G

c.323C>G

2 papers

NM_007294.4

p.A108E

c.323C>A

1 paper

NM_007294.4

p.A108delFs

c.322delC

1 paper

NM_007294.4

p.K109N

c.327A>T

1 paper

NM_007294.4

p.K109K

c.327A>G

1 paper

NM_007294.4

p.K109fs

c.325_326fs