Varaico: Literature-Extracted Genetic Variants

Gene:GORASP2
Variant:p.P131P

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.P131P
c.393A>T
Surrounding Variants
1 paper
NM_015530.5
p.H132Q
c.396C>A
1 paper
NM_015530.5
p.Y135N
c.403T>A
1 paper
NM_015530.5
p.I136L
c.406A>T
2 papers
NM_015530.5
p.P123S
c.367C>T
1 paper
NM_015530.5
p.V142D
c.425T>A
1 paper
NM_015530.5
p.E145A
c.434A>C
1 paper
NM_015530.5
p.E117*
c.349G>T
1 paper
NM_015530.5
p.A108P
c.322G>C
1 paper
NM_015530.5
p.R101C
c.301C>T
1 paper
NM_015530.5
p.W90C
c.270G>C
1 paper
NM_015530.5
p.W90C
c.270G>T
1 paper
NM_015530.5
p.S87T
c.260G>C
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