Varaico: Literature-Extracted Genetic Variants

Gene:COPG1
Variant:p.I55L

COPG1

58 papers

Pfam Domains

Adaptin_Naa 23–539UCSCAdaptin N terminal region
COP-gamma_platfaa 611–759UCSCCoatomer gamma subunit appendage platform subdomain
Coatomer_g_Cplaaa 761–873UCSCCoatomer subunit gamma-1 C-terminal appendage platform

Gene Aliases

HGNC Name

coat protein complex I subunit gamma 1

HGNC Previous Names

COPI coat complex subunit gamma 1; coatomer protein complex, subunit gamma; coatomer protein complex, subunit gamma 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016128.4
p.I55L
c.163A>C
Surrounding Variants
2 papers
NM_016128.4
p.I55L
c.163A>T
1 paper
NM_016128.4
p.Q57_G58Splc
c.171+4A>G
1 paper
NM_016128.4
p.A45S
c.133G>T
1 paper
NM_016128.4
p.A66V
c.197C>T
1 paper
NM_016128.4
p.T67I
c.200C>T
1 paper
NM_016128.4
p.Q78E
c.232C>G
1 paper
NM_016128.4
p.R85H
c.254G>A
1 paper
NM_016128.4
p.R86Q
c.257G>A
1 paper
NM_016128.4
p.A99V
c.296C>T
1 paper
NM_016128.4
p.E100Q
c.298G>C
1 paper
NM_016128.4
p.V102G
c.305T>G
1 paper
NM_016128.4
p.S107R
c.319A>C
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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."