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Gene KIT
Variant L813_V824dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions KIT L813_V824dup indicates the insertion of 12 duplicate amino acids, leucine (L)-813 through valine (V)-824, in the protein kinase domain of the Kit protein (UniProt.org). L813_V824dup 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 exon17 KIT L813_V824dup

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Transcript NM_000222.3
gDNA chr4:g.54733145_54733180
cDNA c.2437_2472
Protein p.L813_V824
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741.1 chr4:g.54733145_54733180 c.2437_2472 p.L813_V824 RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733145_54733180 c.2437_2472 p.L813_V824 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733145_54733180 c.2437_2472 p.L813_V824 RefSeq GRCh38/hg38
NM_000222 chr4:g.54733145_54733180 c.2437_2472 p.L813_V824 RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733145_54733180 c.2437_2472 p.L813_V824 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733145_54733180 c.2437_2472 p.L813_V824 RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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