Varaico: Literature-Extracted Genetic Variants

Gene:GIMAP8
Variant:p.F168_N169del2

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.F168_N169del2
c.502_506del6
Surrounding Variants
1 paper
NM_175571.4
p.F168_N169del1
c.504_506delCAA
2 papers
NM_175571.4
p.N151fs
c.451_452fs
1 paper
NM_175571.4
p.N151insFs
c.452dupA
1 paper
NM_175571.4
p.N151delFs
c.452delA
1 paper
NM_175571.4
p.R135P
c.404G>C
1 paper
NM_175571.4
p.V132_K136del0
c.395_406del12
1 paper
NM_175571.4
p.E109E
c.327G>A
2 papers
NM_175571.4
p.E109K
c.325G>A
1 paper
NM_175571.4
p.G104S
c.310G>A
1 paper
NM_175571.4
p.I103I
c.309C>T
1 paper
NM_175571.4
p.S93R
c.279C>A
1 paper
NM_175571.4
p.S93R
c.279C>G
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