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Gene | KIT |
Variant | N655K |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT N655K lies within tyrosine kinase domain 1 (exon 13) of the Kit protein (PMID: 17555444). N655K results in constitutive phosphorylation of Kit in cell culture (PMID: 17489795), and therefore, is predicted to lead to a gain of Kit protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT N655K KIT mutant KIT exon13 KIT N655K |
Transcript | NM_000222.3 |
gDNA | chr4:g.54728096T>G |
cDNA | c.1965T>G |
Protein | p.N655K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |