KYNU
kynureninase
Summary
Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376052980 | 2:143,642,962 | C/T | — | uncertain significance |
| rs200861229 | 2:143,642,980 | G/A | — | uncertain significance |
| rs138596617 | 2:143,642,996 | C/T | — | likely benign |
| rs199895914 | 2:143,643,010 | C/T | — | benign |
| rs751792034 | 2:143,643,021 | G/A | — | uncertain significance |
| rs146238174 | 2:143,643,057 | C/T | — | likely benign |
| rs16858205 | 2:143,643,059 | C/T | — | benign |
| rs746689071 | 2:143,643,063 | A/G | — | uncertain significance |
| rs762184984 | 2:143,643,078 | A/T | — | uncertain significance |
| rs2083189 | 2:143,664,735 | G/A | intron variant | — |
| rs1135401744 | 2:143,676,177 | G/T | — | pathogenic |
| rs1682757691 | 2:143,676,178 | T/C | — | uncertain significance |
| rs747853097 | 2:143,676,203 | T/C | — | likely benign |
| rs2467724013 | 2:143,676,207 | A/G | — | uncertain significance |
| rs369879960 | 2:143,685,221 | A/G | — | conflicting classifications of pathogenicity |
| rs895480569 | 2:143,685,240 | T/C | — | likely benign |
| rs780720490 | 2:143,685,263 | G/C | — | pathogenic |
| rs893482697 | 2:143,712,377 | A/G | — | uncertain significance |
| rs146601376 | 2:143,713,791 | C/T | — | uncertain significance |
| rs758865880 | 2:143,713,804 | T/A | stop gained | pathogenic |
| rs2467839682 | 2:143,715,212 | T/A | — | likely pathogenic |
| rs201791037 | 2:143,715,220 | A/G | — | uncertain significance |
| rs147103103 | 2:143,715,264 | C/T | — | uncertain significance |
| rs2304705 | 2:143,715,265 | G/A | — | uncertain significance |
| rs778954709 | 2:143,715,276 | C/G | — | uncertain significance |
| rs6743085 | 2:143,718,195 | G/A | — | benign |
| rs606231307 | 2:143,718,202 | A/G | missense variant | pathogenic |
| rs950077650 | 2:143,718,211 | A/G | — | uncertain significance |
| rs765122670 | 2:143,718,226 | G/A | — | pathogenic |
| rs752277959 | 2:143,718,260 | T/C | — | uncertain significance |
| rs141632644 | 2:143,718,335 | C/T | — | uncertain significance |
| rs116104452 | 2:143,718,348 | G/A | — | benign |
| rs1480730349 | 2:143,742,654 | G/T | — | uncertain significance |
| rs998404119 | 2:143,742,655 | T/C | — | likely benign |
| rs137982021 | 2:143,742,658 | T/G | — | uncertain significance |
| rs372144733 | 2:143,742,681 | A/G | — | uncertain significance |
| rs139634527 | 2:143,742,682 | T/C | — | benign |
| rs2467912114 | 2:143,742,687 | T/C | — | uncertain significance |
| rs376794557 | 2:143,742,696 | T/C | — | conflicting classifications of pathogenicity |
| rs1458654786 | 2:143,742,711 | A/G | — | pathogenic |
| rs1685164393 | 2:143,742,748 | C/A | — | likely pathogenic |
| rs373196560 | 2:143,742,759 | C/T | — | likely benign |
| rs191359593 | 2:143,742,760 | G/A | — | likely benign |
| rs149755270 | 2:143,743,533 | C/T | — | uncertain significance |
| rs754059081 | 2:143,743,553 | T/C | — | uncertain significance |
| rs754953201 | 2:143,743,591 | G/A | — | likely pathogenic |
| rs7425446 | 2:143,777,498 | T/A | intron variant | — |
| rs352925 | 2:143,778,350 | C/T | intron variant | — |
| rs1686687362 | 2:143,787,194 | A/C | — | likely pathogenic |
| rs1013609644 | 2:143,787,239 | A/G | — | uncertain significance |
| rs6430000 | 2:143,787,274 | C/T | — | benign |
| rs62169949 | 2:143,788,221 | G/A | — | — |
| rs11678380 | 2:143,788,222 | C/T | — | — |
| rs60431337 | 2:143,789,866 | A/C | — | — |
| rs142934146 | 2:143,790,838 | G/A | — | pathogenic |
| rs771131526 | 2:143,790,884 | T/A | — | pathogenic |
| rs1483044652 | 2:143,790,890 | G/A | — | uncertain significance |
| rs12477146 | 2:143,793,814 | G/A | intron variant | — |
| rs187469176 | 2:143,794,991 | A/C | intron variant | — |
| rs114204731 | 2:143,798,002 | T/C | — | benign |
| rs377612575 | 2:143,798,028 | G/A | — | uncertain significance |
| rs754344264 | 2:143,798,123 | A/G | — | uncertain significance |
| rs376044073 | 2:143,798,133 | C/T | — | uncertain significance |
| rs1442620289 | 2:143,798,162 | C/A | — | uncertain significance |
| rs2468020645 | 2:143,798,187 | A/G | — | uncertain significance |
| rs1573924259 | 2:143,798,215 | A/G | — | likely benign |
| rs3845642 | 2:143,799,003 | G/A | intron variant | — |
| rs147475752 | 2:143,799,625 | C/T | — | pathogenic |
| rs1267030172 | 2:143,799,646 | G/A | — | uncertain significance |
| rs199546957 | 2:143,799,647 | T/C | missense variant | — |
| rs354687 | 2:143,800,744 | A/G | downstream gene variant | — |
| rs16858549 | 2:143,800,796 | T/C | downstream gene variant | — |
| rs73961713 | 2:143,801,205 | C/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.