Varaico: Literature-Extracted Genetic Variants

Gene:PDXK
Variant:p.F26S

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
2 papers
NM_003681.5
p.F26S
c.77T>C
Surrounding Variants
1 paper
NM_003681.5
p.A24_T25insFs
c.72_73insC
1 paper
NM_003681.5
p.V19A
c.56T>C
1 paper
NM_003681.5
p.V19M
c.55G>A
1 paper
NM_003681.5
p.G17A
c.50G>C
1 paper
NM_003681.5
p.G17S
c.49G>A
1 paper
NM_003681.5
p.H13P
c.38A>C
1 paper
NM_003681.5
p.H13R
c.38A>G
1 paper
NM_003681.5
p.V7M
c.19G>A
1 paper
NM_003681.5
p.R6Q
c.17G>A
1 paper
NM_003681.5
p.E4D
c.12G>C
1 paper
NM_003681.5
p.M1delins
c.1delinsC
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