Varaico: Literature-Extracted Genetic Variants

Gene:ETNK2

ETNK2

32 papers

RefSeq Summary

The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) e...

Pfam Domains

Choline_kinaseaa 85–373UCSCCholine/ethanolamine kinase

Gene Aliases

HGNC Name

ethanolamine kinase 2

HGNC Alias Symbols

FLJ10761; EKI2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
5 papers
NM_018208.4
p.P10Q
c.29C>A
1 paper
NM_018208.4
p.P4S
c.10C>T
1 paper
NM_018208.4
p.Q9*
c.25C>T
1 paper
NM_018208.4
p.P10T
c.28C>A
1 paper
NM_018208.4
p.P23S
c.67C>T
1 paper
NM_018208.4
p.E41*
c.121G>T
1 paper
NM_018208.4
p.V51D
c.152T>A
1 paper
NM_018208.4
p.V83_R84insFs
c.249_250insT
1 paper
NM_018208.4
p.R124W
c.370C>T
1 paper
NM_018208.4
p.R124Q
c.371G>A
1 paper
NM_018208.4
p.E125A
c.374A>C
1 paper
NM_018208.4
p.S138G
c.412A>G
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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."