Gene Variant Detail

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Gene ALK
Variant I1250T
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ALK I1250T lies within the protein kinase domain of the Alk protein (UniProt.org). I1250T confers a loss of function on Alk as indicated by loss of kinase activity and loss of the ability to activate downstream signaling pathways in cell culture (PMID: 21804922).
Associated Drug Resistance
Category Variants Paths

ALK mutant ALK inact mut ALK I1250T

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Transcript NM_004304.5
gDNA chr2:g.29209873A>G
cDNA c.3749T>C
Protein p.I1250T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004304 chr2:g.29209873A>G c.3749T>C p.I1250T RefSeq GRCh38/hg38
NM_004304.5 chr2:g.29209873A>G c.3749T>C p.I1250T RefSeq GRCh38/hg38
NM_004304.4 chr2:g.29209873A>G c.3749T>C p.I1250T 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References