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Gene KIT
Variant T274M
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT T274M lies within Ig-like C2-type domain 3 of the Kit protein (UniProt.org). T274M results in reduced Kit activation by SCF in cell culture (PMID: 23020152), and therefore, is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT T274M

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Transcript NM_000222.3
gDNA chr4:g.54703788C>T
cDNA c.821C>T
Protein p.T274M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772.1 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
NM_000222 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
XM_017008178 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
NM_001093772 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
XM_017008180 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54703788C>T c.821C>T p.T274M RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54703788C>T c.821C>T p.T274M 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References