MIURF

Chr 22

mitochondrial elongation factor 1 upstream open reading frame

Also known as: AltMIEF1, AltMiD51, MIEF1-MP

NCBI Gene: 127898561ENSG00000285025

This gene represents an upstream open reading frame located in the transcripts of mitochondrial elongation factor 1 (GeneID:) gene. The open reading frame shows a strong signature of protein-coding regions in PhyloCSF and translation of the 70aa protein is supported by peptide and ribosome profiling data. [provided by RefSeq, Dec 2022]

4
ClinVar variants
4
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MIURF
📋
ClinVar Variants
4 Pathogenic / Likely Pathogenic of 4 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

4 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
4
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————4
Likely Pathogenic
————0
VUS
————0
Likely Benign
————0
Benign
————0
Total—4

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MIURF · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for MIURF

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools