Varaico: Literature-Extracted Genetic Variants

Gene:GDI1
Variant:p.R423P

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
4 papers
NM_001493.3
p.R423P
c.1268G>C
Surrounding Variants
1 paper
NM_001493.3
p.Y421S
c.1262A>C
1 paper
NM_001493.3
p.Y421N
c.1261T>A
1 paper
NM_001493.3
p.I420N
c.1259T>A
1 paper
NM_001493.3
p.I420V
c.1258A>G
1 paper
NM_001493.3
p.D419E
c.1257C>G
1 paper
NM_001493.3
p.D419N
c.1255G>A
1 paper
NM_001493.3
p.K418K
c.1254A>G
1 paper
NM_001493.3
p.I417T
c.1250T>C
1 paper
NM_001493.3
p.I417F
c.1249A>T
1 paper
NM_001493.3
p.N415K
c.1245C>G
1 paper
NM_001493.3
p.K437insFs
c.1311dupA
1 paper
NM_001493.3
p.D392fs
c.1174_1175fs
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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."