Gene Variant Detail

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Gene ALK
Variant F1245V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK F1245V lies within the protein kinase domain of the Alk protein (UniProt.org). F1245V confers a gain of function to the Alk protein, as it results in increased Alk kinase activity in vitro and leads to transformation activity in cell culture (PMID: 25517749, PMID: 33674381, PMID: 25517749).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK F1245X ALK F1245V

ALK mutant ALK act mut ALK F1245V

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Transcript NM_004304.4
gDNA chr2:g.29213994A>C
cDNA c.3733T>G
Protein p.F1245V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29213994A>C c.3733T>G p.F1245V RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29213994A>C c.3733T>G p.F1245V 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK F1245V neuroblastoma predicted - sensitive Entrectinib Case Reports/Case Series Actionable In a clinical study, combined analysis of 2 Phase I trials showed Rozlytrek (entrectinib) treatment to result in a partial response that lasted 8.3 months in a patient with neuroblastoma harboring ALK F1245V, who remained on treatment for over 3.5 years due to clinical benefit (PMID: 28183697). 28183697