Varaico: Literature-Extracted Genetic Variants

Gene:GDI1
Variant:p.V343L

GDI1

81 papers

RefSeq Summary

GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular tra...

Pfam Domains

GDIaa 1–436UCSCGDP dissociation inhibitor

Gene Aliases

HGNC Name

GDP dissociation inhibitor 1

HGNC Previous Symbols

MRX48; MRX41; GDIL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001493.3
p.V343L
c.1027G>C
Surrounding Variants
1 paper
NM_001493.3
p.V343L
c.1027G>T
1 paper
NM_001493.3
p.A344V
c.1031C>T
1 paper
NM_001493.3
p.Q346*
c.1036C>T
1 paper
NM_001493.3
p.T355del1
c.1063_1064delACT
1 paper
NM_001493.3
p.K379E
c.1135A>G
1 paper
NM_001493.3
p.F380delFs
c.1140delT
1 paper
NM_001493.3
p.D391_D392insFs
c.1173_1174ins7
1 paper
NM_001493.3
p.D392fs
c.1174_1175fs
1 paper
NM_001493.3
p.Q325H
c.975G>C
1 paper
NM_001493.3
p.Q325H
c.975G>T
1 paper
NM_001493.3
p.Q323*
c.967C>T
1 paper
NM_001493.3
p.P322S
c.964C>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."