Gene Variant Detail

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 G1269S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ALK G1269S lies within the protein kinase domain of the Alk protein (UniProt.org). G1269S is predicted to confer a gain of function on the Alk protein as indicated by increased Alk phosphorylation (PMID: 21948233) and has been demonstrated to confer resistance to Alk inhibitors in the context of EML4-ALK (PMID: 21948233, PMID: 22034911).
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK act mut ALK G1269S

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.29209815_29209817delGGAinsAGC
cDNA c.3805_3807delGGAinsAGC
Protein p.G1269S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29209815_29209817delTCCinsGCT c.3805_3807delGGAinsAGC p.G1269S RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29209815_29209817delGGAinsAGC c.3805_3807delGGAinsAGC p.G1269S RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29209815_29209817delGGAinsAGC c.3805_3807delGGAinsAGC p.G1269S 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 G1269S Advanced Solid Tumor decreased response TPX-0131 Preclinical - Biochemical Actionable In a preclinical study, ALK G1269S demonstrated reduced sensitivity to TPX-0131 in an in vitro kinase assay (PMID: 34158340). 34158340
ALK G1269S Advanced Solid Tumor predicted - sensitive Conteltinib Preclinical - Biochemical Actionable In a preclinical study, Conteltinib (CT-707) inhibited ALK G1269S activity in an in vitro assay (PMID: 36424628). 36424628