NHLRC2

Chr 10AR

NHL repeat containing 2

Also known as: FINCA

NCBI Gene: 374354ENSG00000196865UniProt: Q8NBF2OMIM: 618277

Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

FINCA syndromeMIM #618278
AR
UniProtFibrosis, neurodegeneration, and cerebral angiomatosis
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.000
Z-score 2.95
OE 0.44 (0.29–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.74Z-score
OE missense 0.89 (0.81–0.98)
328 obs / 368.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.29–0.68)
0≤0.351.4
Missense OE?0.89 (0.81–0.98)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 14 / 32.0Missense obs/exp: 328 / 368.1Syn Z: 0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NHLRC2 · 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