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Gene CHEK2
Variant Y123C
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CHEK2 Y123C lies within the FHA domain of the Chek2 protein (UniProt.org). Y123C results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to have no effect on Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 Y123C

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Transcript NM_007194.4
gDNA chr22:g.28725319T>C
cDNA c.368A>G
Protein p.Y123C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28725319T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
NM_145862 chr22:g.28725319T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28725349T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
XM_011529843 chr22:g.28725319T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28725319T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725319T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
NM_007194 chr22:g.28725319T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725319T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
XM_024452148.1 chr22:g.28725349T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
XM_011529842 chr22:g.28725349T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
XM_011529842.2 chr22:g.28725349T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28725349T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28725319T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28725349T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
XM_011529842.3 chr22:g.28725349T>C c.368A>G p.Y123C RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725319T>C c.368A>G p.Y123C RefSeq GRCh38/hg38

Filtering

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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")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References