Varaico: Literature-Extracted Genetic Variants

Gene:GORASP1
Variant:p.A127V

GORASP1

211 papers

RefSeq Summary

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing ...

Pfam Domains

GRASP55_65aa 1–92UCSCGRASP55/65 PDZ-like domain
GRASP55_65aa 69–205UCSCGRASP55/65 PDZ-like domain

Gene Aliases

HGNC Name

golgi reassembly stacking protein 1

HGNC Previous Symbol

GOLPH5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_031899.4
p.A127V
c.380C>T
Surrounding Variants
2 papers
NM_031899.4
p.G128D
c.383G>A
1 paper
NM_031899.4
p.R130C
c.388C>T
1 paper
NM_031899.4
p.A124V
c.371C>T
1 paper
NM_031899.4
p.V137I
c.409G>A
1 paper
NM_031899.4
p.D117_V118ins5
c.349_353ins15
1 paper
NM_031899.4
p.S139L
c.416C>T
1 paper
NM_031899.4
p.I142I
c.426T>A
2 papers
NM_031899.4
p.E145A
c.434A>C
1 paper
NM_031899.4
p.S146A
c.436T>G
1 paper
NM_031899.4
p.S146P
c.436T>C
1 paper
NM_031899.4
p.F150L
c.448T>C
1 paper
NM_031899.4
p.F150L
c.450T>G
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