ALK F1245V
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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 act mut ALK F1245V

ALK mutant ALK F1245X ALK F1245V

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")

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.

Transcript NM_004304.5
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_004304.4 chr2:g.29213994A>C c.3733T>G p.F1245V RefSeq GRCh38/hg38
NM_004304 chr2:g.29213994A>C c.3733T>G p.F1245V RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29213994A>C c.3733T>G p.F1245V 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")

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 combined analysis of 2 Phase I trials (ALKA-372-001, STARTRK-1), Rozlytrek (entrectinib) treatment resulted 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; NCT02097810). 28183697
ALK F1245V neuroblastoma predicted - sensitive Lorlatinib Case Reports/Case Series Actionable In a Phase I trial, Lorbrena (lorlatinib) treatment resulted in a complete response of marrow disease in a neuroblastoma patient harboring ALK F1245V, along with NF1 P2472fs and BRCA2 F2410fs (PMID: 37147298; NCT03107988). 37147298