TRX-CAT1-8

Chr 17

tRNA-iMet (anticodon CAT) 1-8

Also known as: TRNAM14, TRX-CAT1-2

NCBI Gene: 100189255
0
Active trials
8
Pathogenic / LP
12
ClinVar variants
3
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— TRX-CAT1-8
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 4 VUS of 12 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TRX-CAT1-8?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

12 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic2
VUS4
6
Pathogenic
2
Likely Pathogenic
4
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————6
Likely Pathogenic
————2
VUS
————4
Likely Benign
————0
Benign
————0
Total—12

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRX-CAT1-8 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients