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Gene KIT
Variant K623M
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KIT K623M lies within the protein kinase domain of the Kit protein (UniProt.org). K623M results in a loss of Kit autophosphorylation, reduced phosphorylation upon ligand stimulation as compared to wild-type Kit, and decreased downstream signaling, as demonstrated by reduced phosphorylation of Erk1/2 in cell culture (PMID: 20824047).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT K623M

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Transcript NM_000222.3
gDNA chr4:g.54727916A>T
cDNA c.1868A>T
Protein p.K623M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178.1 chr4:g.54727916A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727925A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727916A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727925A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727916A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727916A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727925A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727916A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727925A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727925A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727925A>T c.1868A>T p.K623M RefSeq GRCh38/hg38
NM_000222 chr4:g.54727916A>T c.1868A>T p.K623M 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
KIT K623M loss of function