Varaico: Literature-Extracted Genetic Variants

Gene:GDI1

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
1–12 of 65 variants
9 papers
NM_001493.3
p.L92P
c.275T>C
5 papers
NM_001493.3
p.R70*
c.208C>T
4 papers
NM_001493.3
p.R423P
c.1268G>C
2 papers
NM_001493.3
p.L241W
c.722T>G
2 papers
NM_001493.3
p.P284S
c.850C>T
1 paper
NM_001493.3
p.M1V
c.1A>G
1 paper
NM_001493.3
p.E3A
c.8A>C
1 paper
NM_001493.3
p.I8delFs
c.23delT
1 paper
NM_001493.3
p.G21V
c.62G>T
1 paper
NM_001493.3
p.S43G
c.127A>G
1 paper
NM_001493.3
p.S43N
c.128G>A
1 paper
NM_001493.3
p.K54insFs
c.161dupA
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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."