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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 |
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 |
---|---|---|---|---|---|
NM_000222.3 | 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 |
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_001385290.1 | chr4:g.54733145_54733180 | c.2437_2472 | p.L813_V824 | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733145_54733180 | c.2437_2472 | p.L813_V824 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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