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KIT T417_D419delinsI - Gene Variant Detail

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Gene KIT
Variant T417_D419delinsI
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT T417_D419delinsI results in the deletion of three amino acids in 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 (PMID: 16015387), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT T417_D419delinsI

KIT mutant KIT exon8 KIT T417_D419delinsI

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Transcript NM_000222.3
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_000222.3 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38
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
XM_017008180.1 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54723601_54723609delinsATC c.1249_1257delinsATC p.T417_D419delinsI RefSeq GRCh38/hg38
XM_017008178.1 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
NM_001385286.1 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

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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, 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 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 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