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Gene KIT
Variant S715del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions KIT S715del results in the deletion of an amino acid within the protein kinase domain of the Kit protein at amino acid 715 (UniProt.org). S715del has been identified in sequencing studies (PMID: 11786393), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT S715del

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Transcript NM_000222.3
gDNA chr4:g.54731329_54731331delAGC
cDNA c.2143_2145delAGC
Protein p.S715delS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385288.1 chr4:g.54731339_54731341delCTA c.2144_2146delCTA p.T715delT RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54731332_54731334delGAT c.2143_2145delGAT p.D715delD RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54731344_54731346delGAG c.2143_2145delGAG p.E715delE RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54729484_54731331del1848 c.2143_2145del1848 p.C715delC RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54731341_54731343delAAT c.2143_2145delAAT p.N715delN RefSeq GRCh38/hg38
NM_000222 chr4:g.54731329_54731331delAGC c.2143_2145delAGC p.S715del RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54729484_54731328del1845 c.2143_2145del1845 p.C715delC RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54731329_54731331delAGC c.2143_2145delAGC p.S715delS RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54731341_54731343delAAT c.2143_2145delAAT p.N715delN RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54731329_54731331delAGC c.2143_2145delAGC p.S715del RefSeq GRCh38/hg38

Filtering

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