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Gene CHEK2
Variant Y404C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 Y404C lies within the protein kinase domain of the Chek2 protein (UniProt.org). Y404C has been identified in sequencing studies (PMID: 29596542, PMID: 36436242), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 Y404C

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Transcript NM_007194.4
gDNA chr22:g.28695758T>C
cDNA c.1211A>G
Protein p.Y404C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529844.3 chr22:g.28697086T>C c.1211A>G p.Y404C RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695758T>C c.1211A>G p.Y404C RefSeq GRCh38/hg38
XM_011529844 chr22:g.28697086T>C c.1211A>G p.Y404C RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28695800T>C c.1211A>G p.Y404C RefSeq GRCh38/hg38
XM_011529844.2 chr22:g.28697086T>C c.1211A>G p.Y404C RefSeq GRCh38/hg38
NM_007194 chr22:g.28695758T>C c.1211A>G p.Y404C RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695758T>C c.1211A>G p.Y404C RefSeq GRCh38/hg38

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  • 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