Varaico: Literature-Extracted Genetic Variants

Gene:PDXK
Variant:p.D173A

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
1 paper
NM_003681.5
p.D173A
c.518A>C
Surrounding Variants
1 paper
NM_003681.5
p.D173N
c.517G>A
1 paper
NM_003681.5
p.H176Y
c.526C>T
1 paper
NM_003681.5
p.P193A
c.577C>G
1 paper
NM_003681.5
p.L199R
c.596T>G
1 paper
NM_003681.5
p.G203R
c.607G>A
1 paper
NM_003681.5
p.G203R
c.607G>C
1 paper
NM_003681.5
p.R207W
c.619A>T
1 paper
NM_003681.5
p.S213S
c.639C>T
1 paper
NM_003681.5
p.V215L
c.643G>T
4 papers
NM_003681.5
p.R220Q
c.659G>A
1 paper
NM_003681.5
p.M221K
c.662T>A
1 paper
NM_003681.5
p.I223T
c.668T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."