Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.P300P

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.P300P
c.900C>G
Surrounding Variants
2 papers
NM_005198.5
p.P300L
c.899C>T
1 paper
NM_005198.5
p.P300H
c.899C>A
3 papers
NM_005198.5
p.T301I
c.902C>T
1 paper
NM_005198.5
p.T301R
c.902C>G
2 papers
NM_005198.5
p.Y296C
c.887A>G
2 papers
NM_005198.5
p.Y296S
c.887A>C
1 paper
NM_005198.5
p.Q306*
c.916C>T
2 papers
NM_005198.5
p.P294R
c.881C>G
5 papers
NM_005198.5
p.Q308*
c.922C>T
4 papers
NM_005198.5
p.E292*
c.874G>T
1 paper
NM_005198.5
p.Q309_L310Splc
c.927+1G>A
2 papers
NM_005198.5
p.W284_D287delFs
c.852_859del8
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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."