Varaico: Literature-Extracted Genetic Variants

Gene:GIMAP8
Variant:p.P239L

GIMAP8

71 papers

RefSeq Summary

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are loca...

Pfam Domains

AIG1aa 11–219UCSCAIG1 family
AIG1aa 248–438UCSCAIG1 family
AIG1aa 439–655UCSCAIG1 family

Gene Aliases

HGNC Name

GTPase, IMAP family member 8

HGNC Alias Symbols

DKFZp667I133; hIAN6; IAN9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_175571.4
p.P239L
c.716C>T
Surrounding Variants
1 paper
NM_175571.4
p.Q233K
c.697C>A
2 papers
NM_175571.4
p.V250I
c.748G>A
1 paper
NM_175571.4
p.G259E
c.776G>A
1 paper
NM_175571.4
p.I301T
c.902T>C
1 paper
NM_175571.4
p.P304A
c.910C>G
1 paper
NM_175571.4
p.A342V
c.1025C>T
1 paper
NM_175571.4
p.I360F
c.1078A>T
1 paper
NM_175571.4
p.S381R
c.1141A>C
1 paper
NM_175571.4
p.S381R
c.1143C>A
1 paper
NM_175571.4
p.S381R
c.1143C>G
1 paper
NM_175571.4
p.I389M
c.1167C>G
2 papers
NM_175571.4
p.R395_E406delFs
c.1183_1217del35
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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."