Varaico: Literature-Extracted Genetic Variants

Gene:GDI1
Variant:p.E214insFs

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.E214insFs
c.641_642insC
Surrounding Variants
1 paper
NM_001493.3
p.L198fs
c.592_593fs
1 paper
NM_001493.3
p.G232G
c.696C>T
1 paper
NM_001493.3
p.G237V
c.710G>T
1 paper
NM_001493.3
p.R240Splc
c.719+34G>A
1 paper
NM_001493.3
p.R193C
c.577C>T
1 paper
NM_001493.3
p.K174M
c.521A>T
1 paper
NM_001493.3
p.F158S
c.473T>C
1 paper
NM_001493.3
p.P155L
c.464C>T
1 paper
NM_001493.3
p.D151insFs
c.451dupG
1 paper
NM_001493.3
p.G133G
c.399C>T
2 papers
NM_001493.3
p.L241W
c.722T>G
1 paper
NM_001493.3
p.D256Y
c.766G>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."