Varaico: Literature-Extracted Genetic Variants

Gene:GARIN4
Variant:p.N253S

GARIN4

69 papers

RefSeq Summary

This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the...

Pfam Domains

GARIL_Rab2_bdaa 115–184UCSCGolgi associated RAB2 interactor protein-like, Rab2B-binding domain

Gene Aliases

HGNC Name

golgi associated RAB2 interactor family member 4

HGNC Previous Symbol

FAM71A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_153606.4
p.N253S
c.758A>G
Surrounding Variants
1 paper
NM_153606.4
p.P260H
c.779C>A
1 paper
NM_153606.4
p.E242*
c.724G>T
1 paper
NM_153606.4
p.A283V
c.848C>T
1 paper
NM_153606.4
p.Q218Q
c.654G>A
1 paper
NM_153606.4
p.D215Y
c.643G>T
1 paper
NM_153606.4
p.A300T
c.898G>A
1 paper
NM_153606.4
p.A300G
c.899C>G
1 paper
NM_153606.4
p.R203G
c.607A>G
1 paper
NM_153606.4
p.V308L
c.922G>C
1 paper
NM_153606.4
p.V308L
c.922G>T
1 paper
NM_153606.4
p.A189G
c.566C>G
1 paper
NM_153606.4
p.P188P
c.564A>T
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