Varaico: Literature-Extracted Genetic Variants

Gene:COPS8
Variant:p.H47R

COPS8

50 papers

RefSeq Summary

The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The struc...

Pfam Domains

CSN8_PSD8_EIF3Kaa 31–170UCSCCSN8/PSMD8/EIF3K family

Gene Aliases

HGNC Name

COP9 signalosome subunit 8

HGNC Alias Symbols

COP9; CSN8; MGC1297; SGN8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006710.5
p.H47R
c.140A>G
Surrounding Variants
1 paper
NM_006710.5
p.E26E
c.78G>A
1 paper
NM_006710.5
p.S66A
c.196T>G
1 paper
NM_006710.5
p.G78A
c.233G>C
1 paper
NM_006710.5
p.G88G
c.264G>A
1 paper
NM_006710.5
p.V102L
c.304G>C
1 paper
NM_006710.5
p.D111Y
c.331G>T
1 paper
NM_006710.5
p.D111Splc
c.332-3T>G
1 paper
NM_006710.5
p.T126T
c.378T>C
1 paper
NM_006710.5
p.I129I
c.387C>T
1 paper
NM_006710.5
p.D131N
c.391G>A
2 papers
NM_006710.5
p.G147D
c.440G>A
1 paper
NM_006710.5
p.G147Splc
c.439+6T>A
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