Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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 |
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 |
---|---|---|---|---|---|
XM_011529844 | 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_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 |
NM_007194.4 | chr22:g.28711994A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
XM_011529843 | chr22:g.28703505_28703506delAAinsGG | c.706_707delTTinsCC | p.L236P | RefSeq | GRCh38/hg38 |
XM_011529839 | chr22:g.28725021_28725022delAAinsGG | c.706_707delTTinsCC | p.L236P | RefSeq | GRCh38/hg38 |
NM_001005735.2 | chr22:g.28724991A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
XM_006724116.3 | chr22:g.28695719A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
XM_006724116 | chr22:g.28695719A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28711994A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28711994A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28711994A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
XM_011529844.2 | chr22:g.28725021_28725022delTTinsCC | c.706_707delTTinsCC | p.L236P | RefSeq | GRCh38/hg38 |
XM_047441105.1 | chr22:g.28724991A>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_006724114.4 | chr22:g.28695782A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28711994A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
XM_024452148.2 | chr22:g.28719401A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
NM_001005735.1 | chr22:g.28724991A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
NM_001349956.1 | chr22:g.28703505_28703506delTTinsCC | c.706_707delTTinsCC | p.L236P | RefSeq | GRCh38/hg38 |
XM_011529844.3 | chr22:g.28725021_28725022delTTinsCC | c.706_707delTTinsCC | p.L236P | RefSeq | GRCh38/hg38 |
XM_006724116.2 | chr22:g.28695719A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
XM_024452149.1 | 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 |
NM_007194 | chr22:g.28711994A>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_024452149.2 | chr22:g.28719401A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
NM_001005735 | chr22:g.28724991A>G | c.707T>C | p.L236P | RefSeq | GRCh38/hg38 |
XM_011529840 | chr22:g.28725021_28725022delAAinsGG | c.706_707delTTinsCC | p.L236P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CHEK2 L236P | loss of function - predicted | Olaparib |