Varaico: Literature-Extracted Genetic Variants

Gene:GORASP2
Variant:p.I252S

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
2 papers
NM_015530.5
p.I252S
c.755T>G
Surrounding Variants
1 paper
NM_015530.5
p.T250I
c.749C>T
1 paper
NM_015530.5
p.S245A
c.733T>G
1 paper
NM_015530.5
p.T264A
c.790A>G
1 paper
NM_015530.5
p.S237A
c.709T>G
1 paper
NM_015530.5
p.V271I
c.811G>A
2 papers
NM_015530.5
p.T225A
c.673A>G
2 papers
NM_015530.5
p.T222A
c.664A>G
1 paper
NM_015530.5
p.G217E
c.650G>A
1 paper
NM_015530.5
p.F207L
c.621T>A
1 paper
NM_015530.5
p.F207L
c.621T>G
1 paper
NM_015530.5
p.F207L
c.619T>C
1 paper
NM_015530.5
p.Y198D
c.592T>G
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