RTKN2
Chr 10rhotekin 2
Also known as: PLEKHK1, bA531F24.1
Clinical highlights
Gene-disease validity (ClinGen)
dilated cardiomyopathy · ARNo Known Disease Relationshipno established gene-disease relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.000
Z-score 1.36
OE 0.75 (0.56–1.04)
Highly tolerant — LoF variants common in population
Missense Constraint?
-0.02Z-score
OE missense 1.00 (0.91–1.10)
308 obs / 306.9 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.75 (0.56–1.04)
0≤0.351.4
Missense OE?1.00 (0.91–1.10)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 27 / 35.8Missense obs/exp: 308 / 306.9Syn Z: 0.36
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RTKN2 · 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