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Gene ALK
Variant R1181H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ALK R1181H lies within the protein kinase domain of the Alk protein (UniProt.org). R1181H results in increased cytokine-independent growth and phosphorylation of Stat3, Erk, Akt, and demonstrates resistance to first generation Alk inhibitors in the context of EML4-ALK in culture (PMID: 38960389), but has not been individually characterized and therefore, its effect on Alk protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK R1181H

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Transcript NM_004304.5
gDNA chr2:g.29220809C>T
cDNA c.3542G>A
Protein p.R1181H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.4 chr2:g.29220809C>T c.3542G>A p.R1181H RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29220809C>T c.3542G>A p.R1181H 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 R1181H unknown
EML4 - ALK ALK R1181H