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Gene | CHEK2 |
Variant | E305G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 E305G lies within the protein kinase domain of the Chek2 protein (UniProt.org). E305G has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 E305G |
Transcript | NM_007194.4 |
gDNA | chr22:g.28699932T>C |
cDNA | c.914A>G |
Protein | p.E305G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006724114.3 | chr22:g.28695141T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_017028561 | chr22:g.28687952T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_006724114 | chr22:g.28695141T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
NM_001257387.2 | chr22:g.28687952T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_024452148.1 | chr22:g.28703529T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
NM_001257387 | chr22:g.28687952T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
NM_001257387.1 | chr22:g.28687952T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_017028561.2 | chr22:g.28687952T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_024452149.2 | chr22:g.28703529T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28699932T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28699932T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_011529845.2 | chr22:g.28687952T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28699932T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_011529845.3 | chr22:g.28687952T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28699932T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28699932T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_024452149.1 | chr22:g.28703529T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_024452148.2 | chr22:g.28703529T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
XM_011529845 | chr22:g.28687952T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28699932T>C | c.914A>G | p.E305G | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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