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Gene | KIT |
Variant | L859S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT L859S lies within the protein kinase domain of the Kit protein (UniProt.org). L859S has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT exon18 KIT L859S |
Transcript | NM_000222.3 |
gDNA | chr4:g.54736588_54736589delCTinsAG |
cDNA | c.2575_2576delCTinsAG |
Protein | p.L859S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222 | chr4:g.54736588_54736589delCTinsAG | c.2575_2576delCTinsAG | p.L859S | RefSeq | GRCh38/hg38 |
NM_001385288.1 | chr4:g.54736597_54736598delCTinsTC | c.2575_2576delCTinsTC | p.L859S | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54736588_54736589delCTinsAG | c.2575_2576delCTinsAG | p.L859S | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54736588_54736589delCTinsAG | c.2575_2576delCTinsAG | p.L859S | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54736588_54736589delCTinsAG | c.2575_2576delCTinsAG | p.L859S | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54736588_54736589delCTinsAG | c.2575_2576delCTinsAG | p.L859S | RefSeq | GRCh38/hg38 |
XM_005265742 | chr4:g.54736597_54736598delCTinsTC | c.2575_2576delCTinsTC | p.L859S | RefSeq | GRCh38/hg38 |
XM_005265742.3 | chr4:g.54736597_54736598delCTinsTC | c.2575_2576delCTinsTC | p.L859S | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54736588_54736589delCTinsAG | c.2575_2576delCTinsAG | p.L859S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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