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Gene CHEK2
Variant L309P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 L309P lies within the protein kinase domain of the Chek2 protein (UniProt.org). L309P 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 L309P

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Transcript NM_007194.4
gDNA chr22:g.28699920A>G
cDNA c.926T>C
Protein p.L309P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.28699920A>G c.926T>C p.L309P RefSeq GRCh38/hg38
NM_007194 chr22:g.28699920A>G c.926T>C p.L309P RefSeq GRCh38/hg38
XM_017028560.2 chr22:g.28710049A>G c.926T>C p.L309P RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28699920A>G c.926T>C p.L309P RefSeq GRCh38/hg38
XM_011529841 chr22:g.28699848_28699849delAAinsGG c.925_926delTTinsCC p.L309P RefSeq GRCh38/hg38
NM_145862 chr22:g.28699920A>G c.926T>C p.L309P RefSeq GRCh38/hg38
XM_017028560 chr22:g.28710049A>G c.926T>C p.L309P RefSeq GRCh38/hg38
XM_017028560.1 chr22:g.28710049A>G c.926T>C p.L309P RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28699920A>G c.926T>C p.L309P RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28699920A>G c.926T>C p.L309P RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28699848_28699849delTTinsCC c.925_926delTTinsCC p.L309P RefSeq GRCh38/hg38
XM_047441108.1 chr22:g.28689184A>G c.926T>C p.L309P RefSeq GRCh38/hg38

Filtering

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