Varaico: Literature-Extracted Genetic Variants

Gene:GIMAP8
Variant:p.E414K

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
1 paper
NM_175571.4
p.E414K
c.1240G>A
Surrounding Variants
1 paper
NM_175571.4
p.L415L
c.1245C>T
1 paper
NM_175571.4
p.R402L
c.1205G>T
1 paper
NM_175571.4
p.Y396H
c.1186T>C
1 paper
NM_175571.4
p.Y396fs
c.1186_1187fs
1 paper
NM_175571.4
p.R395fs
c.1183_1184fs
2 papers
NM_175571.4
p.R395_E406delFs
c.1183_1217del35
1 paper
NM_175571.4
p.R395_E406del12
c.1183_1217del36
1 paper
NM_175571.4
p.I389M
c.1167C>G
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.S381R
c.1141A>C
1 paper
NM_175571.4
p.I360F
c.1078A>T
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