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.H1686insFs

c.5057_5058ins4

Surrounding Variants

5 papers

NM_007294.4

p.H1686L

c.5057A>T

35 papers

NM_007294.4

p.H1686R

c.5057A>G

9 papers

NM_007294.4

p.H1686P

c.5057A>C

2 papers

NM_007294.4

p.H1686insFs

c.5056_5057insC

1 paper

NM_007294.4

p.H1686delFs

c.5056delG

1 paper

NM_007294.4

p.H1686_V1687insFs

c.5058_5059ins4

2 papers

NM_007294.4

p.H1686insFs

c.5057dupA

19 papers

NM_007294.4

p.H1686Q

c.5058T>G

19 papers

NM_007294.4

p.H1686Q

c.5058T>A

3 papers

NM_007294.4

p.H1686fs

c.5056_5057fs

14 papers

NM_007294.4

p.H1686Y

c.5056C>T

5 papers

NM_007294.4

p.H1686D

c.5056C>G