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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 2023). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon17 KIT D816X KIT D816E |
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_000222.2 | chr4:g.54733156C>G | c.2448C>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_001093772.1 | chr4:g.54733168T>G | c.2448T>G | p.D816E | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733156C>G | c.2448C>G | p.D816E | RefSeq | GRCh38/hg38 |
XM_017008179 | 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 |
XM_017008179.1 | 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 | 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 |
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 |