Gene Variant Detail

Gene KIT
Variant T417_D419delinsRA
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT T417_D419delinsRA results in the deletion of three amino acids in the extracellular domain of the Kit protein from amino acids 417 to 419, combined with the insertion of an arginine (R) and an alanine (A) at the same site (UniProt.org). T417_D419delinsRA has not been characterized, however similar Kit exon 8 mutations are activating, thus T417_D419delinsRA is predicted to lead to a gain of Kit protein function (PMID: 16015387, PMID: 15618474, PMID: 20484085).
Associated Drug Resistance

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Transcript NM_000222
gDNA chr4:g.54723601_54723609delinsAGGGCA
cDNA c.1249_1257delinsAGGGCA
Protein p.T417_D419delinsRA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
NM_000222 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
NM_001093772 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
XM_017008180 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38

Filtering

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  • 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_D419delinsRA gain of function - predicted KIT Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References