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Input query
Recognized gene
GTPBP3
Normalized c.HGVS
c.1202G>C, c.1228G>A, c.1291C>T, c.1304A>C, c.136T>G and 14 more
Normalized p.HGVS
p.(Ala222Asp), p.(Ala410Thr), p.(Arg238Pro), p.(Arg242His), p.(Arg3Leu) and 13 more
Matching records
36
PM3-positive records
11

Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
GTPBP3 NM_032620.4:c.1432G>C Phase-unconfirmed biallelic evidence
High confidence
Confirmed in trans with c.566G > A; p.R189H
context: Confirmed in trans
 39397867
Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23.
Genes & diseases, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.836C>T Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 38515655
A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing.
Heliyon, 2024
 Supplementary material
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 38515655
A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing.
Heliyon, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.836C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 38327089
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Annals of clinical and translational neurology, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Confirmed in trans with c.[934_957del]; p.[Gly312_Val319del]; del
context: Confirmed in trans
 38327089
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Annals of clinical and translational neurology, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.836C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 36980825
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Genes, 2023
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.934_957del; p.Gly312_Val319del
context: Compound heterozygous candidate
 36980825
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Genes, 2023
 Main article
Open
GTPBP3 NM_032620.4:c.836C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 34276756
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Frontiers in genetics, 2021
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.934_957del; Gly312_Val319del
context: Compound heterozygous candidate
 34276756
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Frontiers in genetics, 2021
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.923_947del; p.E309Rfs
context: Compound heterozygous candidate
 28429146
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Journal of inherited metabolic disease, 2017
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.923-947del; p.E309fs
context: Compound heterozygous candidate
 26741492
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PLoS genetics, 2016
 Main article
Open
GTPBP3 NM_032620.4:c.665C>A No PM3 Evidence Identified
Needs review
No PM3 candidate genotype identified 38327089
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Annals of clinical and translational neurology, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.544G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36344544
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature communications, 2022
 Main article
Open
GTPBP3 NM_032620.4:c.665C>A No PM3 Evidence Identified
High confidence
No PM3 candidate genotype identified 34276756
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Frontiers in genetics, 2021
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T No PM3 Evidence Identified
Needs review
No PM3 candidate genotype identified 33619562
The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases.
Nucleic acids research, 2021
 Main article
Open
GTPBP3 NM_032620.4:c.1228G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31613873
Experimental evolution reveals a general role for the methyltransferase Hmt1 in noise buffering.
PLoS biology, 2019
 Main article and supplement
Open
GTPBP3 NM_032620.4:c.931G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31613873
Experimental evolution reveals a general role for the methyltransferase Hmt1 in noise buffering.
PLoS biology, 2019
 Main article and supplement
Open
GTPBP3 NM_032620.4:c.931G>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31613873
Experimental evolution reveals a general role for the methyltransferase Hmt1 in noise buffering.
PLoS biology, 2019
 Main article and supplement
Open
GTPBP3 NM_032620.4:c.827T>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31597922
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific reports, 2019
 Main article
Open
GTPBP3 NM_032620.4:c.136T>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 30545397
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal of hematology & oncology, 2018
 Main article
Open