ALK R753Q
Gene Variant Detail

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Gene ALK
Variant R753Q
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ALK R753Q lies within the extracellular domain of the Alk protein (UniProt.org). R753Q results in increased cytokine-dependent growth in cell culture (PMID: 34646012), and therefore, is predicted to lead to a gain of Alk protein function.
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK act mut ALK R753Q

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Transcript NM_004304.5
gDNA chr2:g.29239777C>T
cDNA c.2258G>A
Protein p.R753Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.4 chr2:g.29239777C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_004304 chr2:g.29239777C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29239777C>T c.2258G>A p.R753Q 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ALK R753Q Advanced Solid Tumor sensitive Crizotinib Preclinical - Cell culture Actionable In a preclinical study, Xalkori (crizotinib) inhibited growth of transformed cells expressing ALK R753Q in culture (PMID: 34646012). 34646012