Varaico: Literature-Extracted Genetic Variants

Gene:COPG2
Variant:p.L164_H165Splc

COPG2

30 papers

Pfam Domains

Adaptin_Naa 23–539UCSCAdaptin N terminal region
COP-gamma_platfaa 609–756UCSCCoatomer gamma subunit appendage platform subdomain
Coatomer_g_Cplaaa 758–870UCSCCoatomer subunit gamma-1 C-terminal appendage platform

Gene Aliases

HGNC Name

coat protein complex I subunit gamma 2

HGNC Alias Symbol

2-COP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012133.6
p.L164_H165Splc
c.493-6A>G
Surrounding Variants
1 paper
NM_012133.6
p.K168fs
c.502_503fs
1 paper
NM_012133.6
p.K168_V173delFs
c.502_517del16
1 paper
NM_012133.6
p.L203V
c.607C>G
1 paper
NM_012133.6
p.K217M
c.650A>T
1 paper
NM_012133.6
p.G246Splc
c.737+3001C>G
1 paper
NM_012133.6
p.A127_C129del3
c.379_386del9
1 paper
NM_012133.6
p.P123P
c.369G>A
1 paper
NM_012133.6
p.S108Splc
c.324-5C>A
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