Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA2
Variant:p.Q244E

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.Q244E
c.730C>G
Surrounding Variants
1 paper
NM_001366244.2
p.E241_Q242delFs
c.723_724delGC
3 papers
NM_001366244.2
p.L239delFs
c.715_716delAG
1 paper
NM_004486.6
p.G210E
c.629G>A
1 paper
NM_001366244.2
p.Q236delFs
c.707_708delCT
1 paper
NM_001366244.2
p.Q234insFs
c.701dupA
1 paper
NM_001366244.2
p.Q248_T262del15
c.742_785del45
1 paper
NM_001366244.2
p.L285R
c.854T>G
1 paper
NM_001366244.2
p.R291C
c.871C>T
2 papers
NM_001366244.2
p.K307K
c.921G>A
1 paper
NM_001366244.2
p.D310G
c.929A>G
1 paper
NM_001366244.2
p.S188R
c.564C>A
1 paper
NM_001366244.2
p.L186L
c.558G>T
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