Varaico: Literature-Extracted Genetic Variants

Gene:GDI1
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
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
1 paper
NM_001493.3
p.L59fs
c.175_176fs
1 paper
NM_001493.3
p.E60D
c.180G>C
1 paper
NM_001493.3
p.E60D
c.180G>T
1 paper
NM_001493.3
p.R68fs
c.202_203fs
5 papers
NM_001493.3
p.R70*
c.208C>T
1 paper
NM_001493.3
p.N73N
c.219T>C
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