Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA5
Variant:p.F350L

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
4 papers
NM_005113.4
p.F350L
c.1048T>C
Surrounding Variants
2 papers
NM_005113.4
p.F350S
c.1049T>C
3 papers
NM_005113.4
p.F350L
c.1050T>A
3 papers
NM_005113.4
p.F350L
c.1050T>G
2 papers
NM_005113.4
p.L354P
c.1061T>C
1 paper
NM_005113.4
p.D335Fs
c.1003delinsGAFs
1 paper
NM_005113.4
p.S330L
c.989C>T
1 paper
NM_005113.4
p.Q313*
c.937C>T
4 papers
NM_005113.4
p.R281Q
c.842G>A
1 paper
NM_005113.4
p.V266I
c.796G>A
1 paper
NM_005113.4
p.E374K
c.1120G>A
1 paper
NM_005113.4
p.N380S
c.1139A>G
1 paper
NM_005113.4
p.R386C
c.1156C>T
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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."