Gene Variant Detail

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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

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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_004304.5 chr2:g.29209815_29209817delGGAinsAGC 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 chr2:g.29209815_29209817delTCCinsGCT c.3805_3807delGGAinsAGC p.G1269S RefSeq GRCh38/hg38

Filtering

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  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries