Protein Variants | Comment | Organism |
---|---|---|
additional information | c-kit gene mutations in three patients with piebaldism: a missense substitution Phe584-Leu, within the tyrosine kinase domain, is associated with a severe piebald phenotype, whereas two different frameshifts, within codons 561 and 642, are both associated with a variable and relatively mild piebald phenotype | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P10721 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
mast/stem cell growth factor receptor | - |
Homo sapiens |