Varaico: Literature-Extracted Genetic Variants

Gene:CHKA
Variant:p.R141W

CHKA

142 papers

RefSeq Summary

The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role....

Pfam Domains

Choline_kinaseaa 113–449UCSCCholine/ethanolamine kinase

Gene Aliases

HGNC Name

choline kinase alpha

HGNC Previous Symbol

CHK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001277.3
p.R141W
c.421C>T
Surrounding Variants
1 paper
NM_001277.3
p.Q153insFs
c.458dupA
1 paper
NM_001277.3
p.M154K
c.461T>A
1 paper
NM_001277.3
p.C127S
c.379T>A
1 paper
NM_001277.3
p.M154_R155Splc
c.462+1G>C
1 paper
NM_001277.3
p.M154_R155Splc
c.462+1G>A
1 paper
NM_001277.3
p.Q126P
c.377A>C
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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."