Gene Variant Detail

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Gene ALK
Variant F1245C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ALK F1245C lies within the protein kinase domain of the Alk protein (UniProt.org). F1245C results in increased downstream signaling and is transforming in cell culture (PMID: 21838707, PMID: 25517749).
Associated Drug Resistance Y
Category Variants Paths

ALK mutant ALK F1245X ALK F1245C

ALK mutant ALK act mut ALK F1245C

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Transcript NM_004304.4
gDNA chr2:g.29213993A>C
cDNA c.3734T>G
Protein p.F1245C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304.4 chr2:g.29213993A>C c.3734T>G p.F1245C RefSeq GRCh38/hg38
NM_004304 chr2:g.29213993A>C c.3734T>G p.F1245C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 F1245C gain of function ALK Inhibitor
ALK F1245C TP53 wild-type
EML4 - ALK ALK F1245C Ceritinib