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Gene KIT
Variant L813_A814insHIV
Impact List insertion
Protein Effect unknown
Gene Variant Descriptions KIT L813_A814insHIV results in the insertion of three amino acids in the protein kinase domain of the Kit protein between amino acids 813 and 814 (UniProt.org). L813_A814insHIV 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_A814insHIV

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Transcript NM_000222.3
gDNA chr4:g.54733147_54733148insCATATCGTA
cDNA c.2439_2440insCATATCGTA
Protein p.L813_A814insHIV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54733147_54733148insCATATCGTA c.2439_2440insCATATCGTA p.L813_A814insHIV RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733147_54733148insCATATCGTA c.2439_2440insCATATCGTA p.L813_A814insHIV RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733147_54733148insCATATCGTA c.2439_2440insCATATCGTA p.L813_A814insHIV RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733147_54733148insCATATCGTA c.2439_2440insCATATCGTA p.L813_A814insHIV RefSeq GRCh38/hg38
NM_000222 chr4:g.54733147_54733148insCATATCGTA c.2439_2440insCATATCGTA p.L813_A814insHIV RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733147_54733148insCATATCGTA c.2439_2440insCATATCGTA p.L813_A814insHIV RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
KIT L813_A814insHIV unknown