Varaico: Literature-Extracted Genetic Variants

Gene:GORASP1
Variant:p.S170L

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.S170L
c.509C>T
Surrounding Variants
1 paper
NM_031899.4
p.D171A
c.512A>C
1 paper
NM_031899.4
p.R174W
c.520C>T
1 paper
NM_031899.4
p.A182T
c.544G>A
1 paper
NM_031899.4
p.G158V
c.473G>T
1 paper
NM_031899.4
p.E157K
c.469G>A
1 paper
NM_031899.4
p.W184*
c.551G>A
1 paper
NM_031899.4
p.W184*
c.552G>A
1 paper
NM_031899.4
p.E154Q
c.460G>C
2 papers
NM_031899.4
p.T151M
c.452C>T
1 paper
NM_031899.4
p.F150L
c.450T>G
1 paper
NM_031899.4
p.F150L
c.450T>A
1 paper
NM_031899.4
p.F150L
c.448T>C
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