Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

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.

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 Protein Effect Treatment Approaches
ALK I1250T loss of function