Varaico: Literature-Extracted Genetic Variants

Gene:COP1
Variant:p.W517L

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
1 paper
NM_022457.7
p.W517L
c.1550G>T
Surrounding Variants
1 paper
NM_022457.7
p.W517C
c.1551G>T
1 paper
NM_022457.7
p.W517C
c.1551G>C
1 paper
NM_022457.7
p.E513*
c.1537G>T
1 paper
NM_022457.7
p.E513K
c.1537G>A
1 paper
NM_022457.7
p.N522Y
c.1564A>T
1 paper
NM_022457.7
p.E511K
c.1531G>A
1 paper
NM_022457.7
p.P526S
c.1576C>T
1 paper
NM_022457.7
p.A530T
c.1588G>A
1 paper
NM_022457.7
p.D534A
c.1601A>C
1 paper
NM_022457.7
p.K537E
c.1609A>G
1 paper
NM_022457.7
p.F501ins2
c.1502_1503ins6
1 paper
NM_022457.7
p.F501ins2
c.1502_1503ins6
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