Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.R273Splc

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
2 papers
NM_005198.5
p.R273Splc
c.818+1G>A
Surrounding Variants
1 paper
NM_005198.5
p.R273T
c.818G>C
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.E255G
c.764A>G
2 papers
NM_005198.5
p.E255K
c.763G>A
1 paper
NM_005198.5
p.I248_L249insT
c.742_746ins3
1 paper
NM_005198.5
p.R273T
c.818G>C
2 papers
NM_005198.5
p.F281F
c.843T>C
2 papers
NM_005198.5
p.C282fs
c.844_845fs
2 papers
NM_005198.5
p.C282insFs
c.844dupT
6 papers
NM_005198.5
p.E283K
c.847G>A
3 papers
NM_005198.5
p.W284*
c.851G>A
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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."