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Gene KIT
Variant D820E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D820E lies within the protein kinase domain of the Kit protein (UniProt.org). D820E has been associated with secondary drug resistance (PMID: 19861442), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon17 KIT D820E

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Transcript NM_000222.3
gDNA chr4:g.54733168T>G
cDNA c.2460T>G
Protein p.D820E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54733168T>G c.2460T>G p.D820E RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733168T>G c.2460T>G p.D820E RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733168T>G c.2460T>G p.D820E RefSeq GRCh38/hg38
NM_000222 chr4:g.54733168T>G c.2460T>G p.D820E RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733168T>G c.2460T>G p.D820E RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733168T>G c.2460T>G p.D820E RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D820E 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 D820E in culture (PMID: 35194937). 35194937
KIT D820E Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, cells expressing KIT D820E demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT D820E thymic carcinoma predicted - sensitive Sorafenib Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic thymic carcinoma harboring KIT D820E demonstrated a partial response to treatment with Nexavar (sorafenib) (PMID: 19461405). 19461405