Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | KIT |
Variant | N822Y |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT N822Y lies within the protein kinase domain of the Kit protein (UniProt.org). N822Y results in constitutive phosphorylation of Kit in culture (PMID: 30094412), 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 N822Y KIT mutant KIT exon17 KIT N822Y |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733172A>T |
cDNA | c.2464A>T |
Protein | p.N822Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.3 | chr4:g.54733172A>T | c.2464A>T | p.N822Y | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733172A>T | c.2464A>T | p.N822Y | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733172A>T | c.2464A>T | p.N822Y | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733172A>T | c.2464A>T | p.N822Y | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733172A>T | c.2464A>T | p.N822Y | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733172A>T | c.2464A>T | p.N822Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT E562_L576del KIT N822Y | gastrointestinal stromal tumor | predicted - resistant | Binimetinib + Imatinib | Case Reports/Case Series | Actionable | In a Phase II trial, KIT N822Y was identified as a secondary mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT E562_L576del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) (PMID: 35041493; NCT01991379). | 35041493 |
KIT V555_D572del KIT N822Y | gastrointestinal stromal tumor | predicted - resistant | Imatinib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V555_D572del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822Y (PMID: 18294292). | 18294292 |