Gene Variant Detail

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Gene KIT
Variant D816N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D816N lies within the protein kinase domain of the Kit protein (UniProt.org). D816N results in constitutive phosphorylation of Kit, is transforming in cell culture, and promotes tumor formation in animal models (PMID: 11378569).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT D816N

KIT mutant KIT exon17 KIT D816X KIT D816N

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Transcript NM_000222.3
gDNA chr4:g.54733154G>A
cDNA c.2446G>A
Protein p.D816N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008179.1 chr4:g.54733166G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733166G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
XM_017008179 chr4:g.54733166G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733166G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733166G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733154G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733154G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733154G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733166G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733154G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733154G>A c.2446G>A p.D816N RefSeq GRCh38/hg38
NM_000222 chr4:g.54733154G>A c.2446G>A p.D816N 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 )
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  • 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 D816N gain of function KIT Inhibitor Avapritinib
KIT V560D KIT D579G KIT D816N