ALK R1279Q
Gene Variant Detail

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Gene ALK
Variant R1279Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ALK R1279Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1279Q is not transforming in culture (PMID: 33674381) but results in tumor formation in the context of Mycn overexpression in mouse models (PMID: 24811913), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK R1279Q

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Transcript NM_004304.5
gDNA chr2:g.29209786_29209787delAGinsCA
cDNA c.3835_3836delAGinsCA
Protein p.R1279Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.5 chr2:g.29209786_29209787delAGinsCA c.3835_3836delAGinsCA p.R1279Q RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29209786_29209787delAGinsCA c.3835_3836delAGinsCA p.R1279Q 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