Varaico: Literature-Extracted Genetic Variants

Gene:GORASP1
Variant:p.D317Y

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
4 papers
NM_031899.4
p.D317Y
c.949G>T
Surrounding Variants
1 paper
NM_031899.4
p.S314Y
c.941C>A
1 paper
NM_031899.4
p.D309N
c.925G>A
1 paper
NM_031899.4
p.A337T
c.1009G>A
1 paper
NM_031899.4
p.V338insFs
c.1012dupG
1 paper
NM_031899.4
p.E344*
c.1030G>T
1 paper
NM_031899.4
p.S352A
c.1054T>G
1 paper
NM_031899.4
p.R355W
c.1063C>T
1 paper
NM_031899.4
p.G357Splc
c.1069+4A>G
1 paper
NM_031899.4
p.A380V
c.1139C>T
1 paper
NM_031899.4
p.P384A
c.1150C>G
1 paper
NM_031899.4
p.D390fs
c.1168_1169fs
1 paper
NM_031899.4
p.D390_S391delFs
c.1170_1171delTG
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