Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA5
Variant:p.L556F

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.L556F
c.1668G>C
Surrounding Variants
4 papers
NM_005113.4
p.L556F
c.1668G>T
1 paper
NM_005113.4
p.T555I
c.1664C>T
1 paper
NM_005113.4
p.K561E
c.1681A>G
1 paper
NM_005113.4
p.R551Q
c.1652G>A
2 papers
NM_005113.4
p.E565K
c.1693G>A
1 paper
NM_005113.4
p.E566Q
c.1696G>C
2 papers
NM_005113.4
p.Q540_E541Splc
c.1620+1G>C
1 paper
NM_005113.4
p.E534*
c.1600G>T
1 paper
NM_005113.4
p.A522D
c.1565C>A
1 paper
NM_005113.4
p.D519Y
c.1555G>T
1 paper
NM_005113.4
p.L514L
c.1540T>C
1 paper
NM_005113.4
p.Q497H
c.1491G>C
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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."