NME3
NME/NM23 nucleoside diphosphate kinase 3
Summary
Enables nucleoside diphosphate kinase activity. Involved in DNA repair; mitochondrial fusion; and nucleoside triphosphate biosynthetic process. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140703991 | 16:1,820,683 | C/T | stop gained | Likely benign |
| rs768994958 | 16:1,820,691 | G/A | — | uncertain significance |
| rs369561097 | 16:1,820,726 | C/T | — | uncertain significance |
| rs371192760 | 16:1,820,892 | C/T | — | uncertain significance |
| rs2548129938 | 16:1,820,921 | G/C | — | uncertain significance |
| rs1467003555 | 16:1,820,963 | G/A | — | uncertain significance |
| rs201012343 | 16:1,821,331 | G/A | — | benign |
| rs769102029 | 16:1,821,346 | C/T | — | uncertain significance |
| rs766550646 | 16:1,821,372 | T/G | — | uncertain significance |
| rs1391286075 | 16:1,821,507 | G/A | — | uncertain significance |
| rs552834368 | 16:1,821,516 | G/A | — | conflicting classifications of pathogenicity |
| rs2042604248 | 16:1,821,535 | T/C | — | uncertain significance |
| rs563189672 | 16:1,822,657 | C/T | regulatory region variant | pathogenic |
| rs763672163 | 16:1,823,027 | G/A | stop gained | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.