Varaico: Literature-Extracted Genetic Variants

Gene:CHKA
Variant:p.F200delFs

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.F200delFs
c.598delA
Surrounding Variants
1 paper
NM_001277.3
p.R204insFs
c.611_612insC
1 paper
NM_001277.3
p.R204P
c.611G>C
1 paper
NM_001277.3
p.R204_L205insFs
c.612_613insC
1 paper
NM_001277.3
p.K195R
c.584A>G
2 papers
NM_001277.3
p.P194S
c.580C>T
1 paper
NM_001277.3
p.I209_P210ins6
c.625_629ins18
1 paper
NM_001277.3
p.P210P
c.630G>A
1 paper
NM_001277.3
p.S191P
c.571T>C
1 paper
NM_001277.3
p.A185_A188del0
c.554_562del9
1 paper
NM_001277.3
p.A174S
c.520G>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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