Varaico: Literature-Extracted Genetic Variants

Gene:GDI1
Variant:p.G263delFs

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.G263delFs
c.788delG
Surrounding Variants
1 paper
NM_001493.3
p.G263fs
c.787_788fs
1 paper
NM_001493.3
p.G267D
c.800G>A
1 paper
NM_001493.3
p.D256Y
c.766G>T
1 paper
NM_001493.3
p.E271K
c.811G>A
2 papers
NM_001493.3
p.L241W
c.722T>G
1 paper
NM_001493.3
p.R276C
c.826C>T
2 papers
NM_001493.3
p.P284S
c.850C>T
1 paper
NM_001493.3
p.R290C
c.868C>T
1 paper
NM_001493.3
p.R299C
c.895C>T
1 paper
NM_001493.3
p.N312N
c.936C>T
1 paper
NM_001493.3
p.P322S
c.964C>T
1 paper
NM_001493.3
p.Q323*
c.967C>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."