Varaico: Literature-Extracted Genetic Variants

Gene:CHKA
Variant:p.F341L

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.F341L
c.1023C>G
Surrounding Variants
1 paper
NM_001277.3
p.F341L
c.1023C>A
1 paper
NM_001277.3
p.F341L
c.1021T>C
1 paper
NM_001277.3
p.Y356C
c.1067A>G
1 paper
NM_001277.3
p.F361Y
c.1082T>A
1 paper
NM_001277.3
p.Y338C
c.1013A>G
1 paper
NM_001277.3
p.S321F
c.962C>T
1 paper
NM_001277.3
p.S321A
c.961T>G
1 paper
NM_001277.3
p.I379V
c.1135A>G
1 paper
NM_001277.3
p.F386F
c.1158C>T
1 paper
NM_001277.3
p.Q308*
c.922C>T
1 paper
NM_001277.3
p.D306A
c.917A>C
2 papers
NM_001277.3
p.P297S
c.889C>T
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