Varaico: Literature-Extracted Genetic Variants

Gene:GORASP2
Variant:p.L163L

GORASP2

157 papers

RefSeq Summary

This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation...

Pfam Domains

GRASP55_65aa 5–99UCSCGRASP55/65 PDZ-like domain
GRASP55_65aa 69–205UCSCGRASP55/65 PDZ-like domain

Gene Aliases

HGNC Name

golgi reassembly stacking protein 2

HGNC Alias Symbols

GRASP55; GRS2; GOLPH6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015530.5
p.L163L
c.487C>T
Surrounding Variants
1 paper
NM_015530.5
p.N167D
c.499A>G
2 papers
NM_015530.5
p.E154K
c.460G>A
1 paper
NM_015530.5
p.V176L
c.526G>C
1 paper
NM_015530.5
p.V176L
c.526G>T
2 papers
NM_015530.5
p.D148N
c.442G>A
1 paper
NM_015530.5
p.S146A
c.436T>G
1 paper
NM_015530.5
p.G188R
c.562G>C
1 paper
NM_015530.5
p.E145A
c.434A>C
1 paper
NM_015530.5
p.V142D
c.425T>A
1 paper
NM_015530.5
p.I136L
c.406A>T
1 paper
NM_015530.5
p.Y135N
c.403T>A
1 paper
NM_015530.5
p.H132Q
c.396C>A
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