Varaico: Literature-Extracted Genetic Variants

Gene:CHKA
Variant:p.A39D

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
2 papers
NM_001277.3
p.A39D
c.116C>A
Surrounding Variants
1 paper
NM_001277.3
p.V33G
c.98T>G
1 paper
NM_001277.3
p.S45F
c.134C>T
1 paper
NM_001277.3
p.S45Y
c.134C>A
1 paper
NM_001277.3
p.Q47P
c.140A>C
1 paper
NM_001277.3
p.A30T
c.88G>A
1 paper
NM_001277.3
p.L20_S26insFs
c.59_77dup19
1 paper
NM_001277.3
p.S26G
c.76A>G
1 paper
NM_001277.3
p.P54T
c.160C>A
1 paper
NM_001277.3
p.G23D
c.68G>A
1 paper
NM_001277.3
p.P60A
c.178C>G
1 paper
NM_001277.3
p.L18fs
c.52_53fs
1 paper
NM_001277.3
p.G17insFs
c.50dupG
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