Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within endochondral ossification; nervous system development; and regulation of epidermis development. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 0.59
Clinical SummaryNAB1
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.022
Z-score 3.00
OE 0.31 (0.180.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.35Z-score
OE missense 0.76 (0.680.86)
194 obs / 254.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.31 (0.180.59)
00.351.4
Missense OE?0.76 (0.680.86)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 7 / 22.3Missense obs/exp: 194 / 254.6Syn Z: 0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NAB1 · 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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