Varaico: Literature-Extracted Genetic Variants

Gene:GORASP2
Variant:p.T76I

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.T76I
c.227C>T
Surrounding Variants
1 paper
NM_015530.5
p.K75_T76del2
c.223_227del6
1 paper
NM_015530.5
p.P86L
c.257C>T
1 paper
NM_015530.5
p.S87T
c.260G>C
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.K56R
c.167A>G
1 paper
NM_015530.5
p.R101C
c.301C>T
1 paper
NM_015530.5
p.K50R
c.149A>G
1 paper
NM_015530.5
p.K50Q
c.148A>C
1 paper
NM_015530.5
p.A108P
c.322G>C
1 paper
NM_015530.5
p.E117*
c.349G>T
2 papers
NM_015530.5
p.P123S
c.367C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."