Gene Variant Detail

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Gene KIT
Variant Y418_D419delinsS
Impact List indel
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 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 Y418_D419delinsS

KIT mutant KIT exon8 KIT Y418_D419delinsS

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Transcript NM_000222.3
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
NM_001093772 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
XM_017008178 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
XM_017008178.1 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
XM_017008180 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54723604_54723609delinsAGC c.1252_1257delinsAGC p.Y418_D419delinsS RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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