Varaico: Literature-Extracted Genetic Variants

Gene:COP1

COP1

155 papers

Pfam Domains

zf-C3HC4_2aa 135–173UCSCZinc finger, C3HC4 type (RING finger)
Beta-prop_NOL10_Naa 461–670UCSCNucleolar protein 10-like, N-terminal domain

Gene Aliases

HGNC Name

COP1 E3 ubiquitin ligase

HGNC Previous Symbol

RFWD2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 165 variants
3 papers
NM_022457.7
p.C136S
c.406T>A
3 papers
NM_022457.7
p.C136S
c.407G>C
3 papers
NM_022457.7
p.R634H
c.1901G>A
2 papers
NM_022457.7
p.S23A
c.67T>G
2 papers
NM_022457.7
p.S30Y
c.89C>A
2 papers
NM_022457.7
p.A44V
c.131C>T
2 papers
NM_022457.7
p.V99G
c.296T>G
2 papers
NM_022457.7
p.C139S
c.415T>A
2 papers
NM_022457.7
p.C139S
c.416G>C
2 papers
NM_022457.7
p.R295T
c.884G>C
2 papers
NM_022457.7
p.M299V
c.895A>G
2 papers
NM_022457.7
p.K443N
c.1329G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."