Varaico: Literature-Extracted Genetic Variants

Gene:COP1
Variant:p.C139S

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
Selected Variant
2 papers
NM_022457.7
p.C139S
c.415T>A
Surrounding Variants
1 paper
NM_022457.7
p.C139R
c.415T>C
2 papers
NM_022457.7
p.C139S
c.416G>C
3 papers
NM_022457.7
p.C136S
c.407G>C
3 papers
NM_022457.7
p.C136S
c.406T>A
1 paper
NM_022457.7
p.M142fs
c.424_425fs
1 paper
NM_022457.7
p.M142delFs
c.424_425delAT
1 paper
NM_022457.7
p.F155L
c.463T>C
1 paper
NM_022457.7
p.F155L
c.465T>G
1 paper
NM_022457.7
p.F155L
c.465T>A
1 paper
NM_022457.7
p.C159Y
c.476G>A
1 paper
NM_022457.7
p.H161R
c.482A>G
1 paper
NM_022457.7
p.Q162ins2
c.485_486ins6
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