Varaico: Literature-Extracted Genetic Variants

Gene:COPG1
Variant:p.Y120C

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
1 paper
NM_016128.4
p.Y120C
c.359A>G
Surrounding Variants
1 paper
NM_016128.4
p.R126Q
c.377G>A
1 paper
NM_016128.4
p.Q130H
c.390G>C
1 paper
NM_016128.4
p.Q130H
c.390G>T
1 paper
NM_016128.4
p.R142H
c.425G>A
1 paper
NM_016128.4
p.Q146K
c.436C>A
1 paper
NM_016128.4
p.I148T
c.443T>C
1 paper
NM_016128.4
p.S170N
c.509G>A
1 paper
NM_016128.4
p.V178M
c.532G>A
1 paper
NM_016128.4
p.S187C
c.559A>T
1 paper
NM_016128.4
p.S107R
c.321C>A
1 paper
NM_016128.4
p.S107R
c.321C>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."