NUTM2A

Chr 10

NUT family member 2A

Also known as: FAM22A

NCBI Gene: 728118ENSG00000184923UniProt: Q8IVF1

ResearchGenerating clinical summary…
0
Active trials
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Pubs (1 yr)
—
P/LP submissions
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P/LP missense
1.94
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.000
Z-score -1.13
OE 1.54 (0.84–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.63Z-score
OE missense 0.84 (0.72–0.99)
107 obs / 127.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.54 (0.84–1.94)
0≤0.351.4
Missense OE?0.84 (0.72–0.99)
0≤0.61.4
Synonymous OE?1.24
0≤1.21.6
LoF obs/exp: 8 / 5.2Missense obs/exp: 107 / 127.1Syn Z: -1.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NUTM2A · 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 →

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