NEXN
Chr 1ADARnexilin F-actin binding protein
Primary Disease Associations & Inheritance
Cardiomyopathy, dilated, 1CCMIM #613122
AD
Cardiomyopathy, dilated, 2M, autosomal recessiveMIM #621261
AR
Cardiomyopathy, hypertrophic, 20MIM #613876
AD
UniProtCardiomyopathy, familial hypertrophic, 20
Clinical highlights
Gene-disease validity (ClinGen)
hypertrophic cardiomyopathy · ADLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.78LOEUF
pLI 0.000
Z-score 2.72
OE 0.55 (0.40–0.78)
Typical tolerance to LoF variation
Missense Constraint?
-0.21Z-score
OE missense 1.03 (0.94–1.13)
354 obs / 343.1 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.55 (0.40–0.78)
0≤0.351.4
Missense OE?1.03 (0.94–1.13)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 24 / 43.3Missense obs/exp: 354 / 343.1Syn Z: 0.17
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
NEXN · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools