Gene Variant Detail

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Gene ALK
Variant D1249fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ALK D1249fs results in a change in the amino acid sequence of the Alk protein beginning at aa 1249 of 1620, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the ATP binding site (UniProt.org), D1249fs is predicted to lead to a loss of Alk protein function.
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK inact mut ALK D1249fs

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Transcript NM_004304.4
gDNA chr2:g.(29209877_29209878)
cDNA c.(3745_3744)
Protein p.D1249fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.4 chr2:g.(29209877_29209878) c.(3745_3744) p.D1249fs RefSeq GRCh38/hg38
NM_004304 chr2:g.(29209877_29209878) c.(3745_3744) p.D1249fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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