Gene Variant Detail

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Gene KIT
Variant A829P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT A829P lies within the protein kinase domain of the Kit protein (UniProt.org). A829P results in constitutive phosphorylation of Kit, activation of Akt and Erk signaling, and confers acquired resistance to imatinib in culture (PMID: 23582185).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT A829P

KIT mutant KIT exon18 KIT A829P

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Transcript NM_000222.2
gDNA chr4:g.54736498G>C
cDNA c.2485G>C
Protein p.A829P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741.1 chr4:g.54736498G>C c.2485G>C p.A829P RefSeq GRCh38/hg38
NM_000222 chr4:g.54736498G>C c.2485G>C p.A829P RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54736498G>C c.2485G>C p.A829P RefSeq GRCh38/hg38
XM_005265741 chr4:g.54736498G>C c.2485G>C p.A829P RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT A829P melanoma resistant Imatinib Preclinical Actionable In a preclinical study, melanoma cells expressing KIT A829P demonstrated resistance to treatment with Gleevec (imatinib mesylate) (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT A829P melanoma resistant Sunitinib Preclinical Actionable In a preclinical study, melanoma cells expressing KIT A829P demonstrated resistance to treatment with Sutent (sunitinib) (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT A829P melanoma sensitive Nilotinib Preclinical Actionable In a preclinical study, Tasigna (nilotinib) demonstrated efficacy by inhibiting proliferation of cultured melanoma cells expressing KIT A829P (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT A829P melanoma sensitive Dasatinib Preclinical Actionable In a preclinical study, Sprycel (dasatinib) demonstrated efficacy by inhibiting proliferation of cultured melanoma cells expressing KIT A829P (PMID: 23582185, PMID: 25594040). 23582185 25594040
KIT A829P Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT A829P demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT A829P Advanced Solid Tumor sensitive Axitinib Preclinical - Cell culture Actionable In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT A829P in culture, however, with decreased potency compared to its potency against other KIT variants (PMID: 31205508). 31205508
KIT A829P Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT A829P in culture (PMID: 35194937). 35194937