QTGAL

Chr 17

queuosine-tRNA galactosyltransferase

Also known as: 3-Gn-T8, B3GNT8, B3GNTL1, BGnT-8, beta-1, beta3Gn-T8, beta3GnTL1

Enables tRNA-queuosine(34) galactosyltransferase activity. Involved in regulation of translation and tRNA modification. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

34
ClinVar variants
7
Pathogenic / LP
pLI score
Missense Z
LOEUF
0
Active trials
Clinical SummaryQTGAL
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 11 VUS of 34 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/QTGAL?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

34 submitted variants in ClinVar

Classification Summary

Pathogenic7
VUS11
Likely Benign16
7
Pathogenic
11
VUS
16
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
0
0
0
VUS
0
8
3
0
11
Likely Benign
0
0
14
2
16
Benign
0
0
0
0
0
Total0824234

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

QTGAL · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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