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Gene KIT
Variant P754fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT P754fs results in a change in the amino acid sequence of the Kit protein beginning at aa 754 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the protein kinase domain (UniProt.org), P754fs is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT P754fs

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Transcript NM_000222.3
gDNA chr4:g.(54731896_54731897)
cDNA c.(2260_2259)
Protein p.P754fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.(54731896_54731897) c.(2260_2259) p.P754fs RefSeq GRCh38/hg38
NM_000222 chr4:g.(54731896_54731897) c.(2260_2259) p.P754fs RefSeq GRCh38/hg38
XM_005265741 chr4:g.(54731896_54731897) c.(2260_2259) p.P754fs RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.(54731896_54731897) c.(2260_2259) p.P754fs RefSeq GRCh38/hg38
NM_000222.3 chr4:g.(54731896_54731897) c.(2260_2259) p.P754fs RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.(54731896_54731897) c.(2260_2259) p.P754fs 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")

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