Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA5
Variant:p.R71Q

GOLGA5

93 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

Golgin_A5aa 420–724UCSCGolgin subfamily A member 5

Gene Aliases

HGNC Name

golgin A5

HGNC Alias Symbols

ret-II; golgin-84; rfg5; GOLIM5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005113.4
p.R71Q
c.212G>A
Surrounding Variants
1 paper
NM_005113.4
p.N72H
c.214A>C
4 papers
NM_005113.4
p.A67G
c.200C>G
1 paper
NM_005113.4
p.G80V
c.239G>T
1 paper
NM_005113.4
p.T61M
c.182C>T
1 paper
NM_005113.4
p.T50A
c.148A>G
1 paper
NM_005113.4
p.T43I
c.128C>T
1 paper
NM_005113.4
p.Y42H
c.124T>C
1 paper
NM_005113.4
p.K38fs
c.112_113fs
1 paper
NM_005113.4
p.K38delFs
c.112delA
1 paper
NM_005113.4
p.F110delFs
c.330delT
1 paper
NM_005113.4
p.R113I
c.338G>T
1 paper
NM_005113.4
p.D119N
c.355G>A
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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."