Varaico: Literature-Extracted Genetic Variants

Gene:PDXK
Variant:p.N75K

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
Selected Variant
3 papers
NM_003681.5
p.N75K
c.225T>A
Surrounding Variants
3 papers
NM_003681.5
p.N75K
c.225T>G
2 papers
NM_003681.5
p.K76N
c.228A>T
1 paper
NM_003681.5
p.M74V
c.220A>G
1 paper
NM_003681.5
p.E67A
c.200A>C
1 paper
NM_003681.5
p.E67Q
c.199G>C
1 paper
NM_003681.5
p.D60E
c.180T>A
1 paper
NM_003681.5
p.W52*
c.156G>A
1 paper
NM_003681.5
p.W52*
c.155G>A
1 paper
NM_003681.5
p.A50T
c.148G>A
1 paper
NM_003681.5
p.G48Splc
c.143-628T>C
1 paper
NM_003681.5
p.G83Splc
c.248-1G>A
2 papers
NM_003681.5
p.D87H
c.259G>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."