KIT D816A
Gene Variant Detail

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Gene KIT
Variant D816A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D816A lies within the protein kinase domain of the Kit protein (UniProt.org). D816A has been identified in the scientific literature (PMID: 22847983) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon17 KIT D816X KIT D816A

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Transcript NM_000222.3
gDNA chr4:g.54733155A>C
cDNA c.2447A>C
Protein p.D816A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54733155A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733167A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733155A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733155A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733167A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
NM_000222 chr4:g.54733155A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733167A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733155A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733167A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733155A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733167A>C c.2447A>C p.D816A RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733167A>C c.2447A>C p.D816A 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 D816A unknown Avapritinib
KIT exon 11 del KIT D816A
KIT exon 11 del KIT V654A KIT D816A