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Gene ALK
Variant A348D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK A348D lies within MAM domain 1 of the Alk protein (UniProt.org). A384D confers a gain of function to the Alk protein as demonstrated by increased cell proliferation in the absence of growth factor and colony formation in culture (PMID: 26032424).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK act mut ALK A348D

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Transcript NM_004304.5
gDNA chr2:g.29532026G>T
cDNA c.1043C>A
Protein p.A348D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29532026G>T c.1043C>A p.A348D RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29532026G>T c.1043C>A p.A348D RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29532026G>T c.1043C>A p.A348D 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 Protein Effect Treatment Approaches
ALK A348D gain of function ALK Inhibitor