Varaico: Literature-Extracted Genetic Variants

Gene:CHKA
Variant:p.P297S

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.P297S
c.889C>T
Surrounding Variants
1 paper
NM_001277.3
p.L292insFs
c.874_875insA
1 paper
NM_001277.3
p.S291*
c.872C>G
1 paper
NM_001277.3
p.S291*
c.872C>A
1 paper
NM_001277.3
p.D306A
c.917A>C
1 paper
NM_001277.3
p.Q308*
c.922C>T
1 paper
NM_001277.3
p.E287A
c.860A>C
1 paper
NM_001277.3
p.L284_E287delFs
c.852_859del8
1 paper
NM_001277.3
p.K276R
c.827A>G
1 paper
NM_001277.3
p.M240V
c.718A>G
1 paper
NM_001277.3
p.T234I
c.701C>T
1 paper
NM_001277.3
p.L221F
c.663G>T
1 paper
NM_001277.3
p.L221F
c.663G>C
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