Gene Variant Detail

Gene KIT
Variant Y418_D419delinsS
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Y418_D419delinsS results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 418 to 419, combined with the insertion of a Serine (S) at the same site (UniProt.org). Y418_D419delinsS is predicted to lead to a gain of Kit protein function because other AML-associated KIT exon 8 deletion mutations are activating (PMID: 16015387).
Associated Drug Resistance

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Transcript NM_000222
gDNA chr4:g.54723604_54723609delinsAGC
cDNA c.1252_1257delinsAGC
Protein p.Y418_D419delinsS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
XM_017008180 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
NM_000222 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
NM_001093772 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS 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"

Sorting

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Molecular Profile Protein Effect Treatment Approaches
KIT Y418_D419delinsS gain of function - predicted KIT Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References