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Gene KIT
Variant S628N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT S628N lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). S628N results in constitutive Kit phosphorylation and activation of downstream Stat3, Akt and Erk1/2, and is transforming in cell culture (PMID: 25317746).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT S628N

KIT mutant KIT exon13 KIT S628N

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Transcript NM_000222.3
gDNA chr4:g.54728014G>A
cDNA c.1883G>A
Protein p.S628N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54728014G>A c.1883G>A p.S628N RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54728014G>A c.1883G>A p.S628N RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54728014G>A c.1883G>A p.S628N RefSeq GRCh38/hg38
NM_000222 chr4:g.54728014G>A c.1883G>A p.S628N RefSeq GRCh38/hg38
XM_017008178 chr4:g.54728014G>A c.1883G>A p.S628N RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54728014G>A c.1883G>A p.S628N RefSeq GRCh38/hg38

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  • 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")

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