NADK2
NAD kinase 2, mitochondrial
Summary
This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Known Variants210 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs544430008 | 5:36,194,145 | T/C | — | — |
| rs1746180873 | 5:36,195,265 | G/A | — | uncertain significance |
| rs1746181564 | 5:36,195,270 | A/C | — | likely benign |
| rs561110793 | 5:36,195,279 | T/A | — | uncertain significance |
| rs761705765 | 5:36,195,298 | G/A | — | uncertain significance |
| rs138382380 | 5:36,195,305 | T/C | — | uncertain significance |
| rs779969036 | 5:36,195,327 | A/C | — | likely benign |
| rs748450485 | 5:36,195,339 | A/G | — | likely benign |
| rs772310092 | 5:36,195,340 | T/C | — | uncertain significance |
| rs2546159477 | 5:36,195,346 | A/G | — | uncertain significance |
| rs62353845 | 5:36,195,350 | T/C | — | conflicting classifications of pathogenicity |
| rs2112044067 | 5:36,195,354 | G/C | — | likely benign |
| rs1579590519 | 5:36,195,357 | A/G | — | likely benign |
| rs775092555 | 5:36,195,365 | A/C | — | uncertain significance |
| rs762584434 | 5:36,195,373 | C/T | — | uncertain significance |
| rs1554006847 | 5:36,195,390 | C/A | — | likely benign |
| rs11952882 | 5:36,195,448 | A/C | — | likely benign |
| rs374262088 | 5:36,197,631 | G/C | — | likely benign |
| rs377615419 | 5:36,197,637 | G/A | — | uncertain significance |
| rs1023280001 | 5:36,197,657 | A/G | — | likely benign |
| rs772840407 | 5:36,197,658 | C/T | — | uncertain significance |
| rs776532188 | 5:36,197,665 | G/A | — | uncertain significance |
| rs765140114 | 5:36,197,681 | T/C | — | likely benign |
| rs371269332 | 5:36,197,684 | A/G | — | likely benign |
| rs1186227104 | 5:36,197,700 | C/T | — | uncertain significance |
| rs79189380 | 5:36,197,729 | C/T | — | benign |
| rs368195000 | 5:36,197,730 | G/A | — | uncertain significance |
| rs1253891704 | 5:36,197,743 | G/A | — | likely benign |
| rs2546163437 | 5:36,197,760 | T/C | — | uncertain significance |
| rs1455857040 | 5:36,197,770 | C/A | — | likely benign |
| rs10461961 | 5:36,197,822 | G/A | — | likely benign |
| rs148609859 | 5:36,197,900 | G/A | — | likely benign |
| rs181317324 | 5:36,198,916 | G/C | intron variant | — |
| rs16902811 | 5:36,200,162 | G/C | — | benign |
| rs4869471 | 5:36,200,234 | A/G | — | likely benign |
| rs889960113 | 5:36,200,317 | T/C | — | likely benign |
| rs1029717568 | 5:36,200,339 | C/T | — | likely benign |
| rs2112066758 | 5:36,200,348 | G/C | — | uncertain significance |
| rs2546167817 | 5:36,200,376 | C/T | — | uncertain significance |
| rs587777772 | 5:36,200,377 | G/A | stop gained | pathogenic |
| rs1379285567 | 5:36,200,381 | T/C | — | likely benign |
| rs199611871 | 5:36,200,389 | A/T | — | likely benign |
| rs186051640 | 5:36,200,399 | G/A | — | likely benign |
| rs573872588 | 5:36,200,487 | A/T | — | likely benign |
| rs1000052327 | 5:36,201,189 | T/C | — | likely benign |
| rs767877637 | 5:36,201,205 | C/T | — | uncertain significance |
| rs1746429613 | 5:36,201,214 | T/C | — | uncertain significance |
| rs1450962375 | 5:36,201,248 | G/A | — | likely benign |
| rs2546169651 | 5:36,201,254 | A/G | — | likely benign |
| rs368604790 | 5:36,201,255 | T/C | — | uncertain significance |
| rs568004801 | 5:36,201,267 | G/A | — | likely benign |
| rs182955062 | 5:36,201,282 | T/G | — | likely benign |
| rs16902812 | 5:36,201,311 | C/G | — | benign |
| rs7705396 | 5:36,201,336 | C/T | — | benign |
| rs16902813 | 5:36,201,364 | A/G | — | likely benign |
| rs749221281 | 5:36,207,252 | C/A | — | likely benign |
| rs1746670652 | 5:36,207,266 | A/G | — | pathogenic |
| rs1159478223 | 5:36,207,277 | C/T | — | likely benign |
| rs761041760 | 5:36,207,337 | A/G | — | likely benign |
| rs201029604 | 5:36,207,364 | A/G | — | likely benign |
| rs756774561 | 5:36,207,386 | A/G | — | likely benign |
| rs2303163 | 5:36,207,424 | G/T | — | benign |
| rs540616400 | 5:36,207,517 | A/G | — | likely benign |
| rs78923858 | 5:36,208,413 | C/A | intron variant | — |
| rs74795677 | 5:36,208,634 | G/C | — | likely benign |
| rs762658808 | 5:36,208,784 | T/C | — | likely benign |
| rs77923483 | 5:36,211,850 | T/G | — | likely benign |
| rs139024617 | 5:36,211,967 | A/G | — | uncertain significance |
| rs775964053 | 5:36,211,984 | T/A | — | likely benign |
| rs749987631 | 5:36,212,003 | T/C | — | uncertain significance |
| rs753606819 | 5:36,212,023 | C/A | — | uncertain significance |
| rs201038371 | 5:36,212,029 | A/G | — | uncertain significance |
| rs3761974 | 5:36,212,217 | C/T | — | benign |
| rs369476638 | 5:36,217,834 | T/A | — | likely benign |
| rs374109481 | 5:36,217,854 | A/T | — | uncertain significance |
| rs766002424 | 5:36,217,858 | T/C | — | uncertain significance |
| rs1261450215 | 5:36,217,862 | C/T | — | uncertain significance |
| rs200166166 | 5:36,217,871 | T/C | — | uncertain significance |
| rs199611784 | 5:36,217,882 | C/G | — | uncertain significance |
| rs142335401 | 5:36,217,885 | T/C | — | uncertain significance |
| rs2546193061 | 5:36,217,892 | G/A | — | uncertain significance |
| rs1747104106 | 5:36,217,909 | T/C | — | uncertain significance |
| rs1229946296 | 5:36,217,914 | G/A | — | likely benign |
| rs2112132418 | 5:36,217,928 | G/A | — | uncertain significance |
| rs770311243 | 5:36,217,939 | A/G | — | uncertain significance |
| rs1487581893 | 5:36,217,945 | G/C | — | uncertain significance |
| rs2546193286 | 5:36,217,958 | A/G | — | uncertain significance |
| rs143886977 | 5:36,217,959 | T/A | — | uncertain significance |
| rs200660335 | 5:36,217,961 | A/T | — | uncertain significance |
| rs1360357385 | 5:36,217,989 | T/C | — | uncertain significance |
| rs3761973 | 5:36,217,997 | T/A | — | benign |
| rs190838707 | 5:36,219,682 | C/T | — | likely benign |
| rs373182107 | 5:36,219,683 | G/A | — | likely benign |
| rs138373837 | 5:36,219,710 | T/C | — | benign |
| rs368962236 | 5:36,219,722 | T/C | — | uncertain significance |
| rs748574609 | 5:36,219,723 | G/T | — | uncertain significance |
| rs141224439 | 5:36,219,727 | G/T | — | likely benign |
| rs2112139179 | 5:36,219,729 | C/T | — | uncertain significance |
| rs747576622 | 5:36,219,731 | T/C | — | uncertain significance |
| rs199828895 | 5:36,219,752 | C/T | — | uncertain significance |
Showing 100 of 210 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.