Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.L188P

CHKB

157 papers

RefSeq Summary

Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidy...

Pfam Domains

Choline_kinaseaa 71–382UCSCCholine/ethanolamine kinase

Gene Aliases

HGNC Name

choline kinase beta

HGNC Previous Symbol

CHKL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005198.5
p.L188P
c.563T>C
Surrounding Variants
4 papers
NM_005198.5
p.P185_L188del0
c.554_562del9
1 paper
NM_005198.5
p.L188fs
c.562_563fs
1 paper
NM_005198.5
p.F189fs
c.565_566fs
1 paper
NM_005198.5
p.P185_L188del4
c.553_563del12
3 papers
NM_005198.5
p.F189_G190delFs
c.565_568del4
4 papers
NM_005198.5
p.R194Q
c.581G>A
1 paper
NM_005198.5
p.P180R
c.539C>G
1 paper
NM_005198.5
p.R159Q
c.476G>A
2 papers
NM_005198.5
p.R159*
c.475C>T
2 papers
NM_005198.5
p.L153insFs
c.458dupT
1 paper
NM_005198.5
p.L153L
c.457T>C
2 papers
NM_005198.5
p.L153fs
c.457_458fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."