NHLRC3

Chr 13

NHL repeat containing 3

This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.01
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?
1.01LOEUF
pLI 0.000
Z-score 1.54
OE 0.60 (0.37–1.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.29Z-score
OE missense 0.94 (0.83–1.07)
171 obs / 182.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.37–1.01)
0≤0.351.4
Missense OE?0.94 (0.83–1.07)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 10 / 16.8Missense obs/exp: 171 / 182.1Syn Z: 0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NHLRC3 · 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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