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Gene CHEK2
Variant C420T
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 C420T lies within the protein kinase domain of the Chek2 protein (UniProt.org). C420T results in decreased cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065), 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 C420T

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Transcript NM_007194.4
gDNA chr22:g.28695710_28695711delTGinsAC
cDNA c.1258_1259delTGinsAC
Protein p.C420T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024452148.1 chr22:g.28695740_28695741delTGinsAC c.1258_1259delTGinsAC p.C420T RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28695740_28695741delTGinsAC c.1258_1259delTGinsAC p.C420T RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28695710_28695711delTGinsAC c.1258_1259delTGinsAC p.C420T RefSeq GRCh38/hg38
NM_007194 chr22:g.28695710_28695711delCAinsGT c.1258_1259delTGinsAC p.C420T RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695710_28695711delTGinsAC c.1258_1259delTGinsAC p.C420T RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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