Varaico: Literature-Extracted Genetic Variants

Gene:CHKA
Variant:p.F5insFs

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
1 paper
NM_001277.3
p.F5insFs
c.14dupT
Surrounding Variants
1 paper
NM_001277.3
p.C6fs
c.16_17fs
1 paper
NM_001277.3
p.T7S
c.19A>T
1 paper
NM_001277.3
p.T7T
c.21C>G
1 paper
NM_001277.3
p.M1_K2insFs
c.3_4insC
1 paper
NM_001277.3
p.M1I
c.3G>A
1 paper
NM_001277.3
p.M1T
c.2T>C
1 paper
NM_001277.3
p.P13P
c.39C>T
1 paper
NM_001277.3
p.L18fs
c.52_53fs
1 paper
NM_001277.3
p.G17insFs
c.50dupG
1 paper
NM_001277.3
p.G23D
c.68G>A
1 paper
NM_001277.3
p.S26G
c.76A>G
1 paper
NM_001277.3
p.L20_S26insFs
c.59_77dup19
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