Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA2
Variant:p.P56S

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
1 paper
NM_001366244.2
p.P56S
c.166C>T
Surrounding Variants
1 paper
NM_001366244.2
p.P56T
c.166C>A
1 paper
NM_001366244.2
p.S54R
c.162T>A
1 paper
NM_001366244.2
p.E57insFs
c.171dupG
1 paper
NM_001366244.2
p.S61A
c.181T>G
1 paper
NM_001366244.2
p.K48R
c.143A>G
1 paper
NM_001366244.2
p.C64S
c.190T>A
1 paper
NM_001366244.2
p.C64S
c.191G>C
1 paper
NM_001366244.2
p.C64Y
c.191G>A
1 paper
NM_001366244.2
p.K47*
c.139A>T
1 paper
NM_001366244.2
p.K45Q
c.133A>C
1 paper
NM_001366244.2
p.G43E
c.128G>A
1 paper
NM_001366244.2
p.D69N
c.205G>A
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