MDH2
malate dehydrogenase 2
Summary
Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Known Variants531 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11553096 | 7:75,677,216 | C/T | — | benign |
| rs1306515179 | 7:75,677,480 | T/C | — | uncertain significance |
| rs1554584421 | 7:75,677,481 | G/A | — | uncertain significance |
| rs1797376152 | 7:75,677,482 | C/G | — | uncertain significance |
| rs1554584427 | 7:75,677,484 | C/T | — | likely benign |
| rs1554584428 | 7:75,677,487 | C/T | — | likely benign |
| rs1554584431 | 7:75,677,488 | G/A | — | uncertain significance |
| rs1412036198 | 7:75,677,490 | C/A | — | likely benign |
| rs1554584437 | 7:75,677,491 | C/G | — | uncertain significance |
| rs11538800 | 7:75,677,494 | G/C | — | uncertain significance |
| rs782164962 | 7:75,677,496 | C/T | — | likely benign |
| rs1163245053 | 7:75,677,497 | C/T | — | uncertain significance |
| rs751504529 | 7:75,677,498 | G/A | — | uncertain significance |
| rs781946624 | 7:75,677,499 | G/A | — | likely benign |
| rs977422153 | 7:75,677,500 | C/G | — | uncertain significance |
| rs6720 | 7:75,677,504 | C/T | — | benign |
| rs1554584459 | 7:75,677,505 | C/T | — | likely benign |
| rs1554584462 | 7:75,677,507 | G/C | — | uncertain significance |
| rs782755606 | 7:75,677,508 | C/G | — | uncertain significance |
| rs1554584464 | 7:75,677,510 | C/T | — | uncertain significance |
| rs1554584467 | 7:75,677,511 | T/A | — | likely benign |
| rs1554584472 | 7:75,677,513 | C/T | — | uncertain significance |
| rs1202158789 | 7:75,677,514 | T/C | — | likely benign |
| rs1554584480 | 7:75,677,518 | C/G | — | uncertain significance |
| rs1554584482 | 7:75,677,519 | G/A | — | uncertain significance |
| rs1554584484 | 7:75,677,520 | C/T | — | likely benign |
| rs1554584485 | 7:75,677,521 | C/T | — | uncertain significance |
| rs782800852 | 7:75,677,523 | C/T | — | likely benign |
| rs781786949 | 7:75,677,524 | A/G | — | uncertain significance |
| rs2535833485 | 7:75,677,525 | G/T | — | uncertain significance |
| rs1209100286 | 7:75,677,526 | C/G | — | uncertain significance |
| rs2535833526 | 7:75,677,530 | A/C | — | uncertain significance |
| rs1294540885 | 7:75,677,533 | A/C | — | uncertain significance |
| rs2535833568 | 7:75,677,534 | C/A | — | uncertain significance |
| rs1233400056 | 7:75,677,535 | C/T | — | likely benign |
| rs1132848 | 7:75,677,538 | G/A | — | likely benign |
| rs2535833622 | 7:75,677,539 | G/T | — | uncertain significance |
| rs1040619285 | 7:75,677,540 | C/T | — | uncertain significance |
| rs2535833651 | 7:75,677,544 | G/C | — | uncertain significance |
| rs1336789978 | 7:75,677,547 | A/C | — | uncertain significance |
| rs782287447 | 7:75,677,555 | C/T | — | likely benign |
| rs2116624564 | 7:75,677,556 | G/C | — | likely benign |
| rs923122072 | 7:75,677,558 | G/T | — | likely benign |
| rs1410019858 | 7:75,677,559 | G/A | — | likely benign |
| rs189383313 | 7:75,677,561 | G/A | — | likely benign |
| rs1470638627 | 7:75,677,563 | G/A | — | likely benign |
| rs2286828 | 7:75,677,578 | G/T | — | benign |
| rs2286829 | 7:75,677,739 | G/A | — | benign |
| rs782688703 | 7:75,684,142 | T/C | — | likely benign |
| rs146206957 | 7:75,684,152 | A/T | — | uncertain significance |
| rs1554585948 | 7:75,684,153 | T/C | — | likely benign |
| rs2535852497 | 7:75,684,154 | G/C | — | uncertain significance |
| rs1554585949 | 7:75,684,155 | C/A | — | uncertain significance |
| rs2535852515 | 7:75,684,156 | T/C | — | likely benign |
| rs2535852522 | 7:75,684,157 | A/G | — | uncertain significance |
| rs2535852534 | 7:75,684,159 | A/G | — | likely benign |
| rs1404425373 | 7:75,684,160 | G/A | — | uncertain significance |
| rs1554585954 | 7:75,684,167 | T/C | — | uncertain significance |
| rs782461596 | 7:75,684,168 | G/T | — | likely benign |
| rs201367969 | 7:75,684,169 | C/G | — | uncertain significance |
| rs782236110 | 7:75,684,171 | A/G | — | likely benign |
| rs1554585956 | 7:75,684,174 | G/A | — | likely benign |
| rs2535852599 | 7:75,684,175 | G/T | — | uncertain significance |
| rs199565893 | 7:75,684,177 | C/G | — | likely benign |
| rs1190781553 | 7:75,684,179 | C/G | — | uncertain significance |
| rs2535852625 | 7:75,684,181 | G/A | — | uncertain significance |
| rs1563546796 | 7:75,684,183 | A/T | — | likely benign |
| rs782294941 | 7:75,684,189 | C/G | — | uncertain significance |
| rs782308462 | 7:75,684,190 | G/A | missense variant | pathogenic |
| rs2535852651 | 7:75,684,191 | G/A | — | uncertain significance |
| rs781932433 | 7:75,684,192 | G/A | — | likely benign |
| rs1585402381 | 7:75,684,195 | G/A | — | likely benign |
| rs139725372 | 7:75,684,196 | C/A | — | uncertain significance |
| rs2535852679 | 7:75,684,199 | C/G | — | uncertain significance |
| rs2535852684 | 7:75,684,200 | T/C | — | uncertain significance |
| rs1585402409 | 7:75,684,207 | T/A | — | likely benign |
| rs782356292 | 7:75,684,208 | C/T | — | uncertain significance |
| rs2535852711 | 7:75,684,210 | C/T | — | likely benign |
| rs2535852715 | 7:75,684,211 | C/T | — | likely benign |
| rs2535852721 | 7:75,684,213 | G/A | — | likely benign |
| rs1554585969 | 7:75,684,214 | A/C | — | uncertain significance |
| rs115117282 | 7:75,684,219 | C/G | — | uncertain significance |
| rs1585402436 | 7:75,684,222 | C/T | — | likely benign |
| rs1554585973 | 7:75,684,224 | C/T | — | uncertain significance |
| rs1282385392 | 7:75,684,225 | C/A | — | likely benign |
| rs1554585976 | 7:75,684,227 | T/C | — | uncertain significance |
| rs2535852758 | 7:75,684,233 | G/A | — | uncertain significance |
| rs901290701 | 7:75,684,235 | C/T | — | uncertain significance |
| rs144321556 | 7:75,684,236 | G/A | — | uncertain significance |
| rs2535852776 | 7:75,684,240 | G/A | — | likely benign |
| rs2535852779 | 7:75,684,241 | A/G | — | uncertain significance |
| rs1554585989 | 7:75,684,243 | C/T | — | likely benign |
| rs2535852793 | 7:75,684,245 | T/C | — | uncertain significance |
| rs1563546877 | 7:75,684,246 | C/G | — | likely benign |
| rs2535852814 | 7:75,684,248 | A/G | — | uncertain significance |
| rs782057861 | 7:75,684,249 | T/C | — | likely benign |
| rs1554585997 | 7:75,684,250 | G/A | — | uncertain significance |
| rs1554586000 | 7:75,684,251 | A/G | — | uncertain significance |
| rs2535852831 | 7:75,684,253 | A/G | — | uncertain significance |
| rs1284035803 | 7:75,684,254 | T/C | — | uncertain significance |
Showing 100 of 531 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.