Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.G246Splc

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.G246Splc
c.736+1G>T
Surrounding Variants
8 papers
NM_005198.5
p.N241S
c.722A>G
4 papers
NM_005198.5
p.S234L
c.701C>T
1 paper
NM_005198.5
p.L229P
c.686T>C
1 paper
NM_005198.5
p.I248_L249insT
c.742_746ins3
2 papers
NM_005198.5
p.E255K
c.763G>A
1 paper
NM_005198.5
p.E255G
c.764A>G
5 papers
NM_005198.5
p.Y270*
c.810T>G
6 papers
NM_005198.5
p.Y270*
c.810T>A
1 paper
NM_005198.5
p.R273T
c.818G>C
2 papers
NM_005198.5
p.R273Splc
c.818+1G>A
4 papers
NM_005198.5
p.R226Splc
c.677+1G>A
1 paper
NM_005198.5
p.E221A
c.662A>C
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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."