Gene Variant Detail

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Gene ALK
Variant R133H
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ALK R133H lies within the extracellular domain of the Alk protein (UniProt.org). R133H has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function.
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK R133H

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Transcript NM_004304.5
gDNA chr2:g.29920262C>T
cDNA c.398G>A
Protein p.R133H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.5 chr2:g.29920262C>T c.398G>A p.R133H RefSeq GRCh38/hg38
NM_004304 chr2:g.29920262C>T c.398G>A p.R133H RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29920262C>T c.398G>A p.R133H 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