Varaico: Literature-Extracted Genetic Variants

Gene:GARIN4
Variant:p.D430fs

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
1 paper
NM_153606.4
p.D430fs
c.1288_1289fs
Surrounding Variants
1 paper
NM_153606.4
p.R439H
c.1316G>A
1 paper
NM_153606.4
p.R446C
c.1336C>T
1 paper
NM_153606.4
p.R446H
c.1337G>A
1 paper
NM_153606.4
p.R412Q
c.1235G>A
1 paper
NM_153606.4
p.S400N
c.1199G>A
2 papers
NM_153606.4
p.D471N
c.1411G>A
1 paper
NM_153606.4
p.A385A
c.1155A>G
1 paper
NM_153606.4
p.A383S
c.1147G>T
1 paper
NM_153606.4
p.P481P
c.1443G>A
1 paper
NM_153606.4
p.S489P
c.1465T>C
1 paper
NM_153606.4
p.G492D
c.1475G>A
1 paper
NM_153606.4
p.A358T
c.1072G>A
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