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.K56K

c.168A>G

Surrounding Variants

12 papers

NM_007294.4

p.K56N

c.168A>T

11 papers

NM_007294.4

p.K56N

c.168A>C

1 paper

NM_007294.4

p.G57W

c.169G>T

1 paper

NM_007294.4

p.K56insFs

c.167_168insA

14 papers

NM_007294.4

p.G57R

c.169G>C

14 papers

NM_007294.4

p.G57R

c.169G>A

2 papers

NM_007294.4

p.K56delFs

c.167delT

5 papers

NM_007294.4

p.K56I

c.167A>T

14 papers

NM_007294.4

p.K56R

c.167A>G

10 papers

NM_007294.4

p.K56T

c.167A>C

2 papers

NM_007294.4

p.K55_K56insFs

c.165_166dupGA

7 papers

NM_007294.4

p.G57V

c.170G>T