ALK R1192P
Gene Variant Detail

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Gene ALK
Variant R1192P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK R1192P lies within the protein kinase domain of the Alk protein (UniProt.org). R1192P confers a gain of function to the Alk protein as demonstrated by increased downstream signalling (PMID: 21838707), activation in in vitro assays (PMID: 33674381, PMID: 25517749), and transformation of cultured cells (PMID: 21838707, PMID: 33674381, PMID: 25517749).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK act mut ALK R1192P

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Transcript NM_004304.5
gDNA chr2:g.29220776C>G
cDNA c.3575G>C
Protein p.R1192P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.5 chr2:g.29220776C>G c.3575G>C p.R1192P RefSeq GRCh38/hg38
NM_004304 chr2:g.29220776C>G c.3575G>C p.R1192P RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29220776C>G c.3575G>C p.R1192P 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries