Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA2
Variant:p.P118L

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.P118L
c.353C>T
Surrounding Variants
1 paper
NM_001366244.2
p.G121R
c.361G>C
1 paper
NM_001366244.2
p.S126_M127delFs
c.376_380del5
1 paper
NM_001366244.2
p.T104T
c.312T>A
1 paper
NM_001366244.2
p.N132S
c.395A>G
1 paper
NM_001366244.2
p.N132K
c.396T>G
1 paper
NM_001366244.2
p.N132K
c.396T>A
1 paper
NM_001366244.2
p.V138L
c.412G>C
1 paper
NM_001366244.2
p.D143N
c.427G>A
1 paper
NM_001366244.2
p.T147A
c.439A>G
1 paper
NM_001366244.2
p.F148S
c.443T>C
1 paper
NM_001366244.2
p.S149L
c.446C>T
1 paper
NM_001366244.2
p.G163D
c.488G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."