Gene Variant Detail

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Gene CHEK2
Variant L236P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 L236P lies within the protein kinase domain of the Chek2 protein (UniProt.org). L236P 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 L236P

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Transcript NM_007194.4
gDNA chr22:g.28711994A>G
cDNA c.707T>C
Protein p.L236P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349956.1 chr22:g.28703505_28703506delTTinsCC c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
NM_145862 chr22:g.28711994A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_011529844.3 chr22:g.28725021_28725022delTTinsCC c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711994A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_011529840.4 chr22:g.28725021_28725022delTTinsCC c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
XM_011529840.3 chr22:g.28725021_28725022delTTinsCC c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
XM_011529843 chr22:g.28703505_28703506delAAinsGG c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
XM_006724116.3 chr22:g.28695719A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_011529839.2 chr22:g.28725021_28725022delTTinsCC c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
XM_024452149.2 chr22:g.28719401A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_006724116.2 chr22:g.28695719A>G c.707T>C p.L236P RefSeq GRCh38/hg38
NM_007194 chr22:g.28711994A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_011529840 chr22:g.28725021_28725022delAAinsGG c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
XM_024452148.1 chr22:g.28719401A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_011529844 chr22:g.28725021_28725022delAAinsGG c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28711994A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_024452149.1 chr22:g.28719401A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_006724116 chr22:g.28695719A>G c.707T>C p.L236P RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28711994A>G c.707T>C p.L236P RefSeq GRCh38/hg38
NM_001005735 chr22:g.28724991A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_011529839.3 chr22:g.28725021_28725022delTTinsCC c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
XM_024452148.2 chr22:g.28719401A>G c.707T>C p.L236P RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28703505_28703506delTTinsCC c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
XM_011529844.2 chr22:g.28725021_28725022delTTinsCC c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711994A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28724991A>G c.707T>C p.L236P RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28724991A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_011529839 chr22:g.28725021_28725022delAAinsGG c.706_707delTTinsCC p.L236P RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28724991A>G c.707T>C p.L236P RefSeq GRCh38/hg38
XM_006724114.4 chr22:g.28695782A>G c.707T>C p.L236P RefSeq GRCh38/hg38

Filtering

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  • 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")

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