MTRF1
mitochondrial translation release factor 1
Summary
The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150511596 | 13:41,791,267 | A/T | — | uncertain significance |
| rs116450658 | 13:41,791,310 | A/C | — | benign |
| rs113314592 | 13:41,797,402 | C/T | — | uncertain significance |
| rs368171359 | 13:41,797,429 | C/T | — | uncertain significance |
| rs149112882 | 13:41,800,596 | C/T | — | uncertain significance |
| rs951030433 | 13:41,800,597 | G/A | — | likely benign |
| rs376093788 | 13:41,800,645 | G/A | — | uncertain significance |
| rs772005272 | 13:41,800,692 | T/G | — | uncertain significance |
| rs766757207 | 13:41,808,119 | C/T | — | uncertain significance |
| rs1285476355 | 13:41,814,434 | C/T | — | uncertain significance |
| rs762389415 | 13:41,814,447 | G/A | — | uncertain significance |
| rs139410221 | 13:41,814,538 | G/A | — | benign |
| rs753826506 | 13:41,814,556 | A/T | — | uncertain significance |
| rs2039222990 | 13:41,826,814 | A/G | — | uncertain significance |
| rs146179881 | 13:41,826,864 | C/T | — | uncertain significance |
| rs111844601 | 13:41,827,092 | A/T | — | benign |
| rs2039263846 | 13:41,827,109 | C/T | — | uncertain significance |
| rs191606711 | 13:41,834,639 | T/C | — | benign |
| rs868181617 | 13:41,834,662 | G/C | — | uncertain significance |
| rs768825466 | 13:41,834,773 | G/T | — | uncertain significance |
| rs1276608913 | 13:41,834,796 | C/T | — | likely benign |
| rs2542681828 | 13:41,834,892 | T/A | — | uncertain significance |
| rs895826292 | 13:41,834,916 | C/A | — | uncertain significance |
| rs532290689 | 13:41,834,931 | C/G | — | uncertain significance |
| rs2542684392 | 13:41,834,958 | T/A | — | uncertain significance |
| rs9566740 | 13:41,865,325 | T/C | upstream gene variant | — |
| rs77478686 | 13:41,869,725 | G/T | — | — |
| rs748574210 | 13:41,882,720 | G/A | — | — |
| rs2501949 | 13:41,883,625 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.