Gene Variant Detail

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Gene KIT
Variant D816H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816H lies within the tyrosine kinase domain region 2 (exon 17) of the Kit protein (PMID: 19164557). D816H results in increased kinase activity, constitutive Kit phosphorylation, activation of Stat3 signaling, and transformation of cultured cells (PMID: 10362788, PMID: 11494148), and confers resistance to some Kit inhibitors (PMID: 25239608).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon17 KIT D816X KIT D816H

KIT mutant KIT act mut KIT D816H

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Transcript NM_000222.2
gDNA chr4:g.54733154G>C
cDNA c.2446G>C
Protein p.D816H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008179 chr4:g.54733166G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733166G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_000222 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733166G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733154G>C c.2446G>C p.D816H RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733166G>C c.2446G>C p.D816H RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D816H Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, KIT D816H demonstrated resistance to Stivarga (regorafenib) in an in vitro assay, and conferred secondary resistance to Stivarga (regorafenib) in transformed cells expressing other KIT mutations (PMID: 25239608). 25239608
KIT D816H Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT D816H demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT D816H Advanced Solid Tumor predicted - sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816H were more sensitive to treatment with Flumatinib in culture compared to Gleevec (imatinib) (PMID: 24205792). 24205792
KIT D816H Advanced Solid Tumor predicted - sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816H were more sensitive to treatment with Sutent (sunitinib) in culture compared to Gleevec (imatinib) (PMID: 24205792). 24205792
KIT D816H Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT D816H were resistant to Gleevec (imatinib) treatment in culture (PMID: 35194937). 35194937