Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.Q198fs

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
1 paper
NM_005198.5
p.Q198fs
c.592_593fs
Surrounding Variants
1 paper
NM_005198.5
p.Q198*
c.592C>T
1 paper
NM_005198.5
p.Q198delFs
c.592_593delTG
1 paper
NM_005198.5
p.I199I
c.597C>T
11 papers
NM_005198.5
p.Q200fs
c.598_599fs
13 papers
NM_005198.5
p.Q200delFs
c.598delG
2 papers
NM_005198.5
p.Q200fs
c.598_599fs
6 papers
NM_005198.5
p.R194Q
c.581G>A
1 paper
NM_005198.5
p.R194G
c.580C>G
3 papers
NM_005198.5
p.P204insFs
c.611_612insC
2 papers
NM_005198.5
p.T205fs
c.613_614fs
1 paper
NM_005198.5
p.M210K
c.629T>A
3 papers
NM_005198.5
p.Y216*
c.648C>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."