Varaico: Literature-Extracted Genetic Variants

Gene:COPG1
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_016128.4
p.K3*
c.7A>T
2 papers
NM_016128.4
p.G13V
c.38G>T
1 paper
NM_016128.4
p.G13V
c.38G>T
1 paper
NM_016128.4
p.V27I
c.79G>A
1 paper
NM_016128.4
p.E30_A31Splc
c.90+1G>A
1 paper
NM_016128.4
p.A45S
c.133G>T
2 papers
NM_016128.4
p.I55L
c.163A>C
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.A66V
c.197C>T
1 paper
NM_016128.4
p.T67I
c.200C>T
1 paper
NM_016128.4
p.Q78E
c.232C>G
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