Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA5
Variant:p.R479T

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.R479T
c.1436G>C
Surrounding Variants
1 paper
NM_005113.4
p.E476Q
c.1426G>C
1 paper
NM_005113.4
p.R472W
c.1414C>T
1 paper
NM_005113.4
p.L492F
c.1474C>T
1 paper
NM_005113.4
p.Q497H
c.1491G>C
1 paper
NM_005113.4
p.Q497H
c.1491G>T
1 paper
NM_005113.4
p.L514L
c.1540T>C
1 paper
NM_005113.4
p.D519Y
c.1555G>T
1 paper
NM_005113.4
p.A522D
c.1565C>A
1 paper
NM_005113.4
p.E534*
c.1600G>T
2 papers
NM_005113.4
p.Q540_E541Splc
c.1620+1G>C
1 paper
NM_005113.4
p.D430E
c.1290C>A
1 paper
NM_005113.4
p.V414G
c.1241T>G
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