Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.R344Q

CHKB

157 papers

RefSeq Summary

Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidy...

Pfam Domains

Choline_kinaseaa 71–382UCSCCholine/ethanolamine kinase

Gene Aliases

HGNC Name

choline kinase beta

HGNC Previous Symbol

CHKL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_005198.5
p.R344Q
c.1031G>A
Surrounding Variants
2 papers
NM_005198.5
p.H350R
c.1049A>G
1 paper
NM_005198.5
p.G354R
c.1060G>C
1 paper
NM_005198.5
p.W356fs
c.1066_1067fs
1 paper
NM_005198.5
p.W356delFs
c.1066_1067delCA
1 paper
NM_005198.5
p.T365N
c.1094C>A
3 papers
NM_005198.5
p.R344Splc
c.1031+3G>C
9 papers
NM_005198.5
p.R344Splc
c.1031+1G>A
4 papers
NM_005198.5
p.R344Q
c.1031G>A
3 papers
NM_005198.5
p.S343insFs
c.1027dupA
3 papers
NM_005198.5
p.S343fs
c.1027_1028fs
1 paper
NM_005198.5
p.E336_D337delFs
c.1007_1010del4
1 paper
NM_005198.5
p.D337G
c.1010A>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."