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Gene CHEK2
Variant K249N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 K249N lies within the protein kinase domain of the Chek2 protein (UniProt.org). K249N has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 K249N

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Transcript NM_007194.4
gDNA chr22:g.28711954C>G
cDNA c.747G>C
Protein p.K249N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28711954C>G c.747G>C p.K249N RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28711954C>G c.747G>C p.K249N RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28711954C>G c.747G>C p.K249N RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711954C>G c.747G>C p.K249N 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References