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Gene CHEK2
Variant Q209*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 Q209* results in a premature truncation of the Chek2 protein at amino acid 209 of 543 (UniProt.org). Q209* results in decreased Chek2 protein expression and phosphorylation in cultured cells and leads to a loss of growth inhibition in response to DNA damage (PMID: 33606978).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 Q209*

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Transcript NM_007194.4
gDNA chr22:g.28719453G>A
cDNA c.625C>T
Protein p.Q209*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28719453G>A c.625C>T p.Q209* RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719453G>A c.625C>T p.Q209* RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28719453G>A c.625C>T p.Q209* RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28719453G>A c.625C>T p.Q209* 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries