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Gene | KIT |
Variant | I653T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT I653T lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). I653T has been identified in the scientific literature (PMID: 21690468), but has not been been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon13 KIT I653T |
Transcript | NM_000222.3 |
gDNA | chr4:g.54728089T>C |
cDNA | c.1958T>C |
Protein | p.I653T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |