Varaico: Literature-Extracted Genetic Variants

Gene:PDXK

PDXK

138 papers

RefSeq Summary

The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded pro...

Pfam Domains

Phos_pyr_kinaa 36–244UCSCPhosphomethylpyrimidine kinase

Gene Aliases

HGNC Name

pyridoxal kinase

HGNC Previous Symbols

C21orf97; C21orf124

Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
5 papers
NM_003681.5
p.A228T
c.682G>A
4 papers
NM_003681.5
p.R220Q
c.659G>A
3 papers
NM_003681.5
p.N75K
c.225T>A
3 papers
NM_003681.5
p.N75K
c.225T>G
2 papers
NM_003681.5
p.F26S
c.77T>C
2 papers
NM_003681.5
p.K76N
c.228A>T
2 papers
NM_003681.5
p.D87H
c.259G>C
2 papers
NM_003681.5
p.V128I
c.382G>A
2 papers
NM_003681.5
p.D235N
c.703G>A
2 papers
NM_003681.5
p.D235A
c.704A>C
2 papers
NM_003681.5
p.A243G
c.728C>G
2 papers
NM_003681.5
p.H246Q
c.738C>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."