PDXK
pyridoxal kinase
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 protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62229179 | 21:45,138,930 | G/T | — | benign |
| rs527362783 | 21:45,139,013 | A/G | — | benign |
| rs13050307 | 21:45,153,751 | A/G | — | benign |
| rs1274583867 | 21:45,153,985 | C/G | — | likely benign |
| rs2299806 | 21:45,154,144 | T/C | — | benign |
| rs139180868 | 21:45,157,062 | C/T | — | likely benign |
| rs749154455 | 21:45,157,169 | G/A | — | likely benign |
| rs76459079 | 21:45,161,346 | G/A | — | benign |
| rs73375216 | 21:45,161,432 | A/G | — | benign |
| rs140485915 | 21:45,161,433 | T/C | — | benign |
| rs1486957429 | 21:45,161,448 | C/T | — | uncertain significance |
| rs543304336 | 21:45,161,553 | G/A | — | uncertain significance |
| rs746208572 | 21:45,161,625 | A/G | — | likely benign |
| rs1601814238 | 21:45,161,630 | T/A | — | likely pathogenic |
| rs73908377 | 21:45,161,850 | T/C | — | benign |
| rs144786200 | 21:45,163,612 | G/A | — | likely benign |
| rs745543010 | 21:45,163,646 | A/G | — | uncertain significance |
| rs114593958 | 21:45,163,714 | T/G | — | benign |
| rs73375218 | 21:45,163,766 | G/A | — | benign |
| rs74373568 | 21:45,163,867 | G/T | — | benign |
| rs77734576 | 21:45,166,002 | C/T | — | likely benign |
| rs147263135 | 21:45,166,005 | T/C | — | uncertain significance |
| rs573868774 | 21:45,166,165 | A/G | — | — |
| rs113597750 | 21:45,168,709 | C/T | — | benign |
| rs11539534 | 21:45,168,884 | A/G | — | benign |
| rs1410792460 | 21:45,168,904 | A/G | — | uncertain significance |
| rs112579284 | 21:45,168,914 | A/G | — | likely benign |
| rs61737062 | 21:45,168,923 | G/A | — | benign |
| rs9974827 | 21:45,169,005 | G/A | — | benign |
| rs1106797 | 21:45,170,285 | G/A | — | benign |
| rs768145639 | 21:45,170,425 | G/A | — | uncertain significance |
| rs1079268 | 21:45,170,580 | G/A | — | benign |
| rs8134507 | 21:45,172,379 | G/A | — | benign |
| rs747275553 | 21:45,172,435 | G/A | — | uncertain significance |
| rs2010795 | 21:45,172,628 | G/A | intron variant | benign |
| rs8132097 | 21:45,173,231 | C/A | — | benign |
| rs201546479 | 21:45,173,472 | G/A | — | uncertain significance |
| rs756627812 | 21:45,173,479 | C/G | — | uncertain significance |
| rs8127335 | 21:45,173,480 | C/T | — | benign |
| rs367927142 | 21:45,173,484 | G/A | — | uncertain significance |
| rs759333796 | 21:45,173,500 | G/A | — | pathogenic |
| rs757480516 | 21:45,173,523 | G/A | — | pathogenic |
| rs77699447 | 21:45,173,705 | C/T | — | benign |
| rs2070534 | 21:45,175,370 | A/G | — | benign |
| rs8128639 | 21:45,175,571 | C/A | — | benign |
| rs1184937966 | 21:45,175,832 | C/T | — | uncertain significance |
| rs146321963 | 21:45,175,839 | C/T | — | likely benign |
| rs200875807 | 21:45,175,847 | G/A | — | uncertain significance |
| rs781389427 | 21:45,175,880 | G/A | — | uncertain significance |
| rs1047402 | 21:45,175,952 | G/A | — | benign |
| rs7527 | 21:45,175,958 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.