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Gene | KIT |
Variant | Y823H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT Y823H lies within the protein kinase domain of the Kit protein (UniProt.org). Y823H has been identified in sequencing studies (PMID: 23014346), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon17 KIT Y823H |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733175T>C |
cDNA | c.2467T>C |
Protein | p.Y823H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.2 | chr4:g.54733175T>C | c.2467T>C | p.Y823H | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733175T>C | c.2467T>C | p.Y823H | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733175T>C | c.2467T>C | p.Y823H | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733175T>C | c.2467T>C | p.Y823H | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733175T>C | c.2467T>C | p.Y823H | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733175T>C | c.2467T>C | p.Y823H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT Q556_K558delinsE KIT V654A KIT Y823H | gastrointestinal stromal tumor | predicted - resistant | Ripretinib | Case Reports/Case Series | Actionable | In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT Q556_K558delinsE and KIT V654A progressed on fourth-line treatment with Qinlock (ripretinib) after 8.5 months and was found to have acquired KIT Y823H in the metastatic lesion (PMID: 38408285). | 38408285 |