Varaico: Literature-Extracted Genetic Variants

Gene:COPG1
Variant:p.N549K

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.N549K
c.1647T>G
Surrounding Variants
1 paper
NM_016128.4
p.N549K
c.1647T>A
1 paper
NM_016128.4
p.N549H
c.1645A>C
1 paper
NM_016128.4
p.L542I
c.1624C>A
1 paper
NM_016128.4
p.Q537*
c.1609C>T
1 paper
NM_016128.4
p.R527Q
c.1580G>A
1 paper
NM_016128.4
p.D520Y
c.1558G>T
1 paper
NM_016128.4
p.S554Y
c.1661C>A
1 paper
NM_016128.4
p.L558P
c.1673T>C
1 paper
NM_016128.4
p.E559K
c.1675G>A
1 paper
NM_016128.4
p.R560G
c.1678A>G
1 paper
NM_016128.4
p.R560K
c.1679G>A
1 paper
NM_016128.4
p.R560T
c.1679G>C
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