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| Gene | CHEK2 |
| Variant | P85R |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | CHEK2 P85R does not lie within any known functional domains of the Chek2 protein (UniProt.org). P85R results in Kap1 phosphorylation and Chek2 autophosphorylation similar to wild-type Chek2 in culture (PMID: 37449874), but decreased kinase activity in an in vitro assay (PMID: 22114986), 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 P85R |
| Transcript | NM_007194.4 |
| gDNA | chr22:g.28734468G>C |
| cDNA | c.254C>G |
| Protein | p.P85R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011529840 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_024452149.1 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_001349956.2 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_047441107.1 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_001005735 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_017028560 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529842 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_047441104.1 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_145862.2 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529839 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529840.4 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529843 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_024452148.1 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_001349956.1 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_024452148.2 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_145862 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_006724116 | chr22:g.28710055G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529844.3 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_017028560.1 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_007194.3 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_006724116.2 | chr22:g.28710055G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529844 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529839.2 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529842.2 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_007194.4 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_145862.2 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_001005735.1 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529839.3 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_047441106.1 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_017028560.2 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529841.1 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_024452149.2 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_001005735.2 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529842.3 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529841 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_047441105.1 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_006724116.3 | chr22:g.28710055G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| NM_007194 | chr22:g.28734468G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529840.3 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| XM_011529844.2 | chr22:g.28734498G>C | c.254C>G | p.P85R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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