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Gene CHEK2
Variant S428F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 S428F lies within the protein kinase domain of the Chek2 protein (UniProt.org). S428F results in decreased Chek2 activity in yeast complementation assays (PMID: 15649950), and therefore, is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 S428F

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Transcript NM_007194.4
gDNA chr22:g.28695219G>A
cDNA c.1283C>T
Protein p.S428F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28695219G>A c.1283C>T p.S428F RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28695177_28695178delAGinsTT c.1282_1283delAGinsTT p.S428F RefSeq GRCh38/hg38
NM_007194 chr22:g.28695219G>A c.1283C>T p.S428F RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695219G>A c.1283C>T p.S428F RefSeq GRCh38/hg38

Filtering

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References