Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA2
Variant:p.Q862K

GOLGA2

247 papers

RefSeq Summary

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interaction...

Pfam Domains

GOLGA2L5aa 381–908UCSCPutative golgin subfamily A member 2-like protein 5
GM130_Caa 953–998UCSCGM130 C-terminal binding motif

Gene Aliases

HGNC Name

golgin A2

HGNC Alias Symbols

GM130; golgin-95

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001366244.2
p.Q862K
c.2584C>A
Surrounding Variants
1 paper
NM_001366244.2
p.R887insFs
c.2660_2661insC
1 paper
NM_001366244.2
p.M832L
c.2494A>T
1 paper
NM_001366244.2
p.M832L
c.2494A>C
1 paper
NM_001366244.2
p.L799L
c.2395C>T
2 papers
NM_001366244.2
p.G921A
c.2762G>C
1 paper
NM_004486.6
p.Q751*
c.2251C>T
1 paper
NM_001366244.2
p.A954D
c.2861C>A
1 paper
NM_001366244.2
p.S968insFs
c.2903_2904insG
1 paper
NM_001366244.2
p.R982H
c.2945G>A
1 paper
NM_001366244.2
p.Q989insFs
c.2965dupC
1 paper
NM_001366244.2
p.P751S
c.2251C>T
1 paper
NM_001366244.2
p.M750I
c.2250G>C
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