Cloned (Comment) | Organism |
---|---|
gene ETNK1, overexpression of wild-type and N244S mutant enzymes in murine Ba/F3 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D816V | naturally occuring mutation involved in adult systemic mastocytosis, chronic myelomonocytic leukemia, or eosinophilia | Homo sapiens |
G245A | naturally occuring mutation involved in adult systemic mastocytosis,with chronic myelomonocytic leukemia and/or eosinophilia, inactive mutant | Homo sapiens |
N244K | naturally occuring mutation involved in adult systemic mastocytosis, with chronic myelomonocytic leukemia and/or eosinophilia, inactive mutant | Homo sapiens |
N244S | naturally occuring mutation involved in adult systemic mastocytosis, with chronic myelomonocytic leukemia and/or eosinophilia, inactive mutant | Homo sapiens |
N244T | naturally occuring mutation involved in adult systemic mastocytosis, with chronic myelomonocytic leukemia and/or eosinophilia, inactive mutant | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9HBU6 | gene ETNK1 | - |
Synonyms | Comment | Organism |
---|---|---|
ethanolamine kinase 1 | - |
Homo sapiens |
ETNK1 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | somatic enzyme mutations targeted to two contiguous amino acids in the ETNK1 kinase domain are involved in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia, phenotypes, overview | Homo sapiens |