Gene Variant Detail

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Gene KIT
Variant T417_D419delinsRA
Impact List indel
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 (PMID: 16015387, PMID: 20484085), 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_D419delinsRA

KIT mutant KIT exon8 KIT T417_D419delinsRA

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Transcript NM_000222.2
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
NM_001093772.1 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
XM_017008178 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
XM_017008180.1 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
NM_000222.2 chr4:g.54723601_54723609delinsAGGGCA c.1249_1257delinsAGGGCA p.T417_D419delinsRA RefSeq GRCh38/hg38
XM_017008178.1 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 )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References