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Gene | KIT |
Variant | Y823C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT Y823C lies within the protein kinase domain of the Kit protein (UniProt.org). Y823C has been identified in sequencing studies (PMID: 14695343), but has not 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 exon17 KIT Y823C |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733176A>G |
cDNA | c.2468A>G |
Protein | p.Y823C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265741 | chr4:g.54733176A>G | c.2468A>G | p.Y823C | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733176A>G | c.2468A>G | p.Y823C | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733176A>G | c.2468A>G | p.Y823C | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733176A>G | c.2468A>G | p.Y823C | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733176A>G | c.2468A>G | p.Y823C | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733176A>G | c.2468A>G | p.Y823C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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