Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA2
Variant:p.R83_A88del6

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.R83_A88del6
c.247_263del18
Surrounding Variants
1 paper
NM_001366244.2
p.L89fs
c.265_266fs
1 paper
NM_001366244.2
p.K96_T97Splc
c.288+1G>A
1 paper
NM_001366244.2
p.L81F
c.241C>T
3 papers
NM_001366244.2
p.Q71L
c.212A>T
1 paper
NM_001366244.2
p.D69A
c.206A>C
1 paper
NM_001366244.2
p.D69N
c.205G>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.C64S
c.190T>A
1 paper
NM_001366244.2
p.S61A
c.181T>G
1 paper
NM_001366244.2
p.E57insFs
c.171dupG
1 paper
NM_001366244.2
p.P56S
c.166C>T
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