ALPK3 Chromosome 15
Alpha kinase 3
Upload your DNA to see your personal genotypes for variants in ALPK3.
What This Gene Does
Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in hypertrophic cardiomyopathy 27. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"I-set domain containing|Alpha kinases"
Locus Type
gene with protein product
Location
15q25.3
Ensembl
ENSG00000136383
Associated Conditions (9)
Cardiovascular phenotype
ALPK3-related disorder
Cardiomyopathy
familial hypertrophic 27
Hypertrophic cardiomyopathy
Lung cancer
Neurodevelopmental disorder
Ovarian serous cystadenocarcinoma
Primary familial hypertrophic cardiomyopathy
Key Variants
RS1005850234
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1008637055
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1009090950
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1012634268
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1015886974
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1018928368
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1027334963
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1051437969
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS114686452
Conflicting classifications of pathogenicity
Cardiovascular phenotype, ALPK3-related disorder, Cardiomyopathy
Health Risk
RS114988007
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS115074675
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS115195927
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
All Variants (352)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2505707123 | Health Risk | Likely pathogenic | — |
| RS2505720978 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2505721718 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2505722433 | Health Risk | Likely pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS2505722576 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2505722938 | Health Risk | Likely pathogenic | — |
| RS2505723820 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2505724060 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2505724668 | Health Risk | Likely pathogenic | — |
| RS2505724987 | Health Risk | Likely pathogenic | — |
| RS2505727260 | Health Risk | Likely pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS2505727517 | Health Risk | Likely pathogenic | ALPK3-related disorder, ALPK3-related disorder |
| RS2505728562 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2505729802 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2505729878 | Health Risk | Likely pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS757327094 | Health Risk | Likely pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS762110595 | Health Risk | Likely pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiovascular phenotype |
| RS1064796122 | Health Risk | Pathogenic | — |
| RS1186665805 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiomyopathy, familial hypertrophic 27 |
| RS1220418124 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1225518851 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS1225841418 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS1225975689 | Health Risk | Pathogenic | — |
| RS1279357583 | Health Risk | Pathogenic | — |
| RS1284611172 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1295297874 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1316134526 | Health Risk | Pathogenic | — |
| RS1364348923 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1418106287 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS1431206462 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiomyopathy, familial hypertrophic 27 |
| RS1442250413 | Health Risk | Pathogenic | — |
| RS1466450842 | Health Risk | Pathogenic | — |
| RS1555435531 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS1555436118 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiovascular phenotype |
| RS1567093598 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS1567093760 | Health Risk | Pathogenic | — |
| RS1596149339 | Health Risk | Pathogenic | — |
| RS1596155145 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiovascular phenotype |
| RS1596155634 | Health Risk | Pathogenic | — |
| RS1963501754 | Health Risk | Pathogenic | Cardiomyopathy, familial hypertrophic 27, Cardiomyopathy |
| RS1963635852 | Health Risk | Pathogenic | — |
| RS1963653131 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1963867873 | Health Risk | Pathogenic | — |
| RS1963874583 | Health Risk | Pathogenic | — |
| RS1963891093 | Health Risk | Pathogenic | — |
| RS1963891935 | Health Risk | Pathogenic | — |
| RS1963898125 | Health Risk | Pathogenic | — |
| RS199599837 | Health Risk | Pathogenic | — |
| RS202153052 | Health Risk | Pathogenic | — |
| RS2141541516 | Health Risk | Pathogenic | — |