NRAP

Chr 10AR

nebulin related anchoring protein

May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cardiomopathy, dilated, 2NMIM #621595
AR

Clinical highlights

Gene-disease validity (ClinGen)
dilated cardiomyopathy · ARStrongappropriate for clinical testing
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
1.00
LOEUF
Multiple*
Mechanism· predicted
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?
1.00LOEUF
pLI 0.000
Z-score 1.55
OE 0.83 (0.701.00)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.17Z-score
OE missense 1.02 (0.961.07)
999 obs / 984.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.83 (0.701.00)
00.351.4
Missense OE?1.02 (0.961.07)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 86 / 103.0Missense obs/exp: 999 / 984.0Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NRAP · 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.

Search ClinicalTrials.gov →