Varaico: Literature-Extracted Genetic Variants

Gene:COPG1
Variant:p.M316L

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.M316L
c.946A>T
Surrounding Variants
1 paper
NM_016128.4
p.S320A
c.958T>G
1 paper
NM_016128.4
p.G352D
c.1055G>A
1 paper
NM_016128.4
p.S366A
c.1096T>G
1 paper
NM_016128.4
p.L311L
c.933C>A
1 paper
NM_016128.4
p.L311L
c.933C>G
1 paper
NM_016128.4
p.Y305*
c.915T>A
1 paper
NM_016128.4
p.Y305*
c.915T>G
1 paper
NM_016128.4
p.R304C
c.910C>T
1 paper
NM_016128.4
p.A301V
c.902C>T
1 paper
NM_016128.4
p.N276H
c.826A>C
1 paper
NM_016128.4
p.A273A
c.819C>T
1 paper
NM_016128.4
p.M265R
c.794T>G
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