Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.R273T

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.R273T
c.818G>C
Surrounding Variants
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
3 papers
NM_005198.5
p.W284*
c.852G>A
1 paper
NM_005198.5
p.V285D
c.854T>A
2 papers
NM_005198.5
p.W284_D287delFs
c.852_859del8
4 papers
NM_005198.5
p.E292*
c.874G>T
2 papers
NM_005198.5
p.P294R
c.881C>G
2 papers
NM_005198.5
p.Y296C
c.887A>G
2 papers
NM_005198.5
p.Y296S
c.887A>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."