QTRT2

Chr 3

queuine tRNA-ribosyltransferase accessory subunit 2

Also known as: QTRTD1

This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.17
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 0.96
OE 0.78 (0.531.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.63Z-score
OE missense 0.88 (0.790.99)
205 obs / 231.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.531.17)
00.351.4
Missense OE?0.88 (0.790.99)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 17 / 21.8Missense obs/exp: 205 / 231.9Syn Z: -0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

QTRT2 · 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

No active trials found for this gene.

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