Gene Variant Detail

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Gene ALK
Variant I1171N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK I1171N lies within the protein kinase domain of the Alk protein (UniProt.org). I1171N results in increased ligand-independent Alk phosphorylation and activation of the Stat pathway in culture (PMID: 23239810, PMID: 21838707), activation in in vitro assays (PMID: 33674381, PMID: 25517749), is transforming in cell culture (PMID: 23239810, (PMID: 33674381, PMID: 25517749), and has been demonstrated to occur as a secondary resistance mutation in the context of ALK fusions (PMID: 27565911).
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK act mut ALK I1171N

ALK mutant ALK I1171X ALK I1171N

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Transcript NM_004304.5
gDNA chr2:g.29222347A>T
cDNA c.3512T>A
Protein p.I1171N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.4 chr2:g.29222347A>T c.3512T>A p.I1171N RefSeq GRCh38/hg38
NM_004304 chr2:g.29222347A>T c.3512T>A p.I1171N RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29222347A>T c.3512T>A p.I1171N 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
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries