Literature summary for 2.7.10.1 extracted from

Giebel, L.B.; Spritz, R.A.
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism (1991), Proc. Natl. Acad. Sci. USA, 88, 8696-8699.

Protein Variants

Protein Variants	Comment	Organism
additional information	piebaldism is an autosomal dominant genetic disorder that results from Gly664Arg mutations within the tyrosine kinase domain of the c-Kit protooncogene	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	P10721	-	-

Synonyms	Comment	Organism
mast/stem cell growth factor receptor	-	Homo sapiens

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Release 2023.1 (January 2023)