Varaico: Literature-Extracted Genetic Variants

Gene:COPG1
Variant:p.V379I

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.V379I
c.1135G>A
Surrounding Variants
3 papers
NM_016128.4
p.I425V
c.1273A>G
1 paper
NM_016128.4
p.S429insFs
c.1287dupA
1 paper
NM_016128.4
p.E430fs
c.1288_1289fs
1 paper
NM_016128.4
p.V450M
c.1348G>A
1 paper
NM_016128.4
p.L456P
c.1367T>C
1 paper
NM_016128.4
p.G463V
c.1388G>T
1 paper
NM_016128.4
p.Y472Y
c.1416C>T
1 paper
NM_016128.4
p.R474H
c.1421G>A
1 paper
NM_016128.4
p.F475F
c.1425C>T
1 paper
NM_016128.4
p.V480L
c.1438G>T
1 paper
NM_016128.4
p.A496V
c.1487C>T
1 paper
NM_016128.4
p.S366A
c.1096T>G
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