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.K109K

c.327A>G

Surrounding Variants

1 paper

NM_007294.4

p.K109N

c.327A>T

1 paper

NM_007294.4

p.K109fs

c.325_326fs

1 paper

NM_007294.4

p.Y105_K109delFs

c.313_326del14

2 papers

NM_007294.4

p.K110fs

c.328_329fs

1 paper

NM_007294.4

p.K109I

c.326A>T

9 papers

NM_007294.4

p.K109R

c.326A>G

2 papers

NM_007294.4

p.K110E

c.328A>G

1 paper

NM_007294.4

p.K110Q

c.328A>C

1 paper

NM_007294.4

p.K110M

c.329A>T

1 paper

NM_007294.4

p.K109*

c.325A>T

1 paper

NM_007294.4

p.K110Fs

c.329delinsTTFs

3 papers

NM_007294.4

p.K110R

c.329A>G