Gene Variant Detail

Gene KIT
Variant T417_D419delinsI
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT T417_D419delinsI results in the deletion of 3 amino acids in the Ig-like C2-type domain 5 of the Kit protein from amino acids 417 to 419, combined with the insertion of an Isoleucine (I) at the same site (UniProt.org). T417_D419delinsI results in constitutive ligand-independent phosphorylation of Kit in cell culture in one study (PMID: 16015387) and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance

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Transcript NM_000222
gDNA chr4:g.54723601_54723609delinsATC
cDNA c.1249_1257delinsATC
Protein p.T417_D419delinsI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38
XM_017008178 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38
NM_001093772 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38
XM_017008180 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
KIT T417_D419delinsI gain of function - predicted KIT Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT T417_D419delinsI Advanced Solid Tumor conflicting Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T417_D419delinsI were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792). 24205792
KIT T417_D419delinsI Advanced Solid Tumor conflicting Imatinib Preclinical - Cell culture Actionable In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation in transformed cells over expressing KIT T417_D419delinsI in culture (PMID: 16015387). 16015387
KIT T417_D419delinsI Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T417_D419delinsI were sensitive to treatment with Flumatinib, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT T417_D419delinsI Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT T417_D419delinsI were sensitive to treatment with Sutent (sunitinib), demonstrating decreased cell proliferation (PMID: 24205792). 24205792