Varaico: Literature-Extracted Genetic Variants

Gene:ETNK1

ETNK1

83 papers

RefSeq Summary

This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits...

Pfam Domains

Choline_kinaseaa 51–145UCSCCholine/ethanolamine kinase
Choline_kinaseaa 51–350UCSCCholine/ethanolamine kinase

Gene Aliases

HGNC Name

ethanolamine kinase 1

HGNC Alias Symbols

EKI1; EKI

Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
9 papers
NM_018638.5
p.G245A
c.734G>C
8 papers
NM_018638.5
p.G245V
c.734G>T
4 papers
NM_018638.5
p.N155S
c.464A>G
2 papers
NM_018638.5
p.G168E
c.503G>A
2 papers
NM_018638.5
p.N247I
c.740A>T
1 paper
NM_018638.5
p.M1_A2ins2
c.3_4ins6
1 paper
NM_018638.5
p.M1I
c.3G>A
1 paper
NM_018638.5
p.M1I
c.3G>C
1 paper
NM_018638.5
p.M1I
c.3G>T
1 paper
NM_018638.5
p.H6_G10delFs
c.17_30del14
1 paper
NM_018638.5
p.V7F
c.19G>T
1 paper
NM_018638.5
p.S11F
c.32C>T
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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."