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

3 papers

NM_007294.4

p.K175R

c.524A>G

Surrounding Variants

1 paper

NM_007294.4

p.K175M

c.524A>T

1 paper

NM_007294.4

p.K175T

c.524A>C

3 papers

NM_007294.4

p.K175N

c.525G>T

2 papers

NM_007294.4

p.K175_T176insFs

c.525_526insC

5 papers

NM_007294.4

p.K175_T176insFs

c.525_526insA

3 papers

NM_007294.4

p.K175N

c.525G>C

1 paper

NM_007294.4

p.K175K

c.525G>A

4 papers

NM_007294.4

p.K175*

c.523A>T

2 papers

NM_007294.4

p.K175E

c.523A>G

1 paper

NM_007294.4

p.K175Q

c.523A>C

1 paper

NM_007294.4

p.K175insFs

c.523_524insG

2 papers

NM_007294.4

p.T176fs

c.526_527fs