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.