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KIT D816E - Gene Variant Detail

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Gene KIT
Variant D816E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D816E lies within the protein kinase domain of the Kit protein (UniProt.org). D816E has been identified in the scientific literature (PMID: 29100343, PMID: 29093181) 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 D816X KIT D816E

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Transcript NM_000222.3
gDNA chr4:g.54733156C>G
cDNA c.2448C>G
Protein p.D816E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
NM_000222 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D816E Advanced Solid Tumor sensitive Nintedanib Preclinical - Cell culture Actionable In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT D816E in culture (PMID: 35194937). 35194937
KIT D816E Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT D816E in culture (PMID: 35194937). 35194937
KIT D816E Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT D816E in culture (PMID: 35194937). 35194937