Varaico: Literature-Extracted Genetic Variants

Gene:PDXK
Variant:p.L116F

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.L116F
c.348G>C
Surrounding Variants
1 paper
NM_003681.5
p.S125L
c.374C>T
1 paper
NM_003681.5
p.L108R
c.323T>G
1 paper
NM_003681.5
p.P106S
c.316C>T
1 paper
NM_003681.5
p.D96A
c.287A>C
1 paper
NM_003681.5
p.L91L
c.273G>A
2 papers
NM_003681.5
p.D87H
c.259G>C
1 paper
NM_003681.5
p.G83Splc
c.248-1G>A
2 papers
NM_003681.5
p.V128I
c.382G>A
1 paper
NM_003681.5
p.P129P
c.387G>A
1 paper
NM_003681.5
p.P134S
c.400C>T
1 paper
NM_003681.5
p.T148M
c.443C>T
1 paper
NM_003681.5
p.P149_N150delFs
c.445_448del4
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."