AKAP10
Chr 17A-kinase anchoring protein 10
Also known as: AKAP-10, D-AKAP-2, D-AKAP2, PRKA10
The AKAP10 protein binds regulatory subunits of protein kinase A and anchors them to mitochondria and plasma membranes, facilitating cellular signaling pathways including apoptosis regulation. Mutations cause autosomal dominant arrhythmogenic disorders with increased risk of cardiac arrhythmias and sudden cardiac death. This gene shows high constraint against loss-of-function variants (LOEUF 0.44), suggesting haploinsufficiency may be an important disease mechanism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
228 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 96 | 0 | 96 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 84 | 16 | 0 | 100 |
Likely Benign | 0 | 0 | 1 | 4 | 5 |
Benign | 0 | 2 | 1 | 0 | 3 |
Conflicting | — | 1 | |||
| Total | 0 | 86 | 116 | 4 | 207 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
AKAP10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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