Gene Variant Detail

Gene KIT
Variant N822K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT N822K lies within the activation loop in the protein kinase domain of the Kit protein (PMID: 24205792). N822K results in constitutive activation of Kit, increased Erk1/2 and Stat3 phosphorylation, is transforming in culture (PMID: 24205792), and has been identified as a secondary mutation associated with imatinib-resistance (PMID: 18488160).
Associated Drug Resistance Y

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Transcript NM_000222
gDNA chr4:g.54733174T>G
cDNA c.2466T>G
Protein p.N822K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
NM_000222 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT W557_K558del KIT N822K Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT N822K Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were resistant to Sutent (sunitinb) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT N822K Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT N822K Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT N822K KIT V559D Advanced Solid Tumor no benefit Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT N822K and KIT V559D were insensitive to Sutent (sunitinib) in culture (PMID: 24205792). 24205792
KIT N822K KIT V559D Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT N822K and KIT V559D were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation and inhibition of Kit, Erk 1/2, and Stat3 phosphorylation (PMID: 24205792). 24205792
KIT W557_K558delinsCE KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Clinical Study Actionable In a clinical study, KIT N822K was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT W557_K558delinsCE, who developed resistance to Gleevec (imatinib mesylate) (PMID: 18488160). 18488160
KIT V569_L576del KIT V654A KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Clinical Study Actionable In a clinical study, KIT V654A and KIT N822K were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring a primary KIT V569_L576del, who developed resistance to Gleevec (imatinib mesylate) (PMID: 18488160). 18488160
KIT N822K acute myeloid leukemia sensitive BPR1J373 Preclinical - Cell line xenograft Actionable In a preclinical study, an acute myeloid leukemia cell line harboring KIT N822K demonstrated sensitivity to treatment with BPR1J373, showing inhibition of Kit phosphorylation and apoptotic induction in culture, and tumor regression in xenograft models (PMID: 27512117). 27512117
KIT N822K acute myeloid leukemia sensitive DCC-2618 Preclinical - Pdx Actionable In a preclinical study, DCC-2618 induced tumor regression in a patient-derived xenograft (PDX) model of acute myeloid leukemia harboring KIT N822K (Cancer Res 2015;75(15 Suppl):Abstract nr 2690). detail...
KIT N822K gastrointestinal stromal tumor resistant Imatinib Clinical Study Actionable In a clinical case study, KIT N822K was identified in the tumor of a gastrointestinal stromal tumor patient that was resistant to Gleevec (imatinib mesylate) treatment. (PMID: 26316776). 26316776
KIT N822K acute myeloid leukemia sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, BLU-285 inhibited Kit phosphorylation and proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 29093181). 29093181
KIT N822K Advanced Solid Tumor predicted - sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822K were more sensitive to treatment with Flumatinib in culture compared to Gleevec (imatinib), demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT N822K leukemia sensitive Ponatinib Preclinical - Cell culture Actionable In a preclinical study, Iclusig (ponatinib) inhibited Kit signaling and viability in leukemia cells harboring KIT N822K in culture (PMID: 21482694). 21482694
KIT N822K Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822K were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792). 24205792
KIT N822K Advanced Solid Tumor predicted - sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT N822K were more sensitive to treatment with Sutent (sunitinib) in culture compared to Gleevec (imatinib), demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT A502_Y503dup KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Clinical Study Actionable In a clinical study, KIT N822K was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT A502_Y503dup, who developed resistance to Gleevec (imatinib mesylate) (PMID: 18488160). 18488160