| Type | Description |
|---|---|
| Definition | alpha kinase 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-22 15:28:00 | Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. | 32480058 |
| 2020-06-13 10:51:00 | Phenotypic spectrum of ALPK3-related cardiomyopathy in a consanguineous family from Oman has been reported. | 31074094 |
| 2018-12-22 12:11:00 | ALPK3 should be included in the list of genes to be considered in genetic studies for patients affected with pediatric syndromic cardiomyopathy. | 30046096 |
| 2017-05-06 13:17:00 | ALPK3 variant segregated with hypertrophic cardiomyopathy in 3 affected members of the family. | 28223422 |
| 2016-06-11 11:29:00 | Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. | 26846950 |
| Type | IDs |
|---|---|
| Synonymous | CMH27, MAK, MIDORI |
| Gene |
UniProtKB-ID:
ALPK3_HUMAN
UniprotKB:
Q96L96
UniParc:
UPI000013D013
EMBL:
AC012291,
AB037751,
AY044449
Ensembl:
ENSG00000136383
KO:
hsa:57538
|
| Nucleutide sequences |
EMBL-CDS:
AAK95951.1,
BAA92568.1
Ensembl_TRS:
ENST00000258888
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000258888
RefSeq:
NP_065829.4
|
| Others |
UniRef100:
UniRef100_Q96L96
UniRef90:
UniRef90_Q96L96
UniRef50:
UniRef50_Q96L96
UniGene:
Hs.459183
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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