Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.R344Splc

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
3 papers
NM_005198.5
p.R344Splc
c.1031+3G>C
Surrounding Variants
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
1 paper
NM_005198.5
p.L334fs
c.1000_1001fs
1 paper
NM_005198.5
p.K333insFs
c.999dupA
1 paper
NM_005198.5
p.E329G
c.986A>G
5 papers
NM_005198.5
p.Q328R
c.983A>G
2 papers
NM_005198.5
p.S327C
c.980C>G
1 paper
NM_005198.5
p.G323S
c.967G>A
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