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Gene | CHEK2 |
Variant | I276S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 I276S lies within the protein kinase domain of the Chek2 protein (UniProt.org). I276S has not been characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 I276S |
Transcript | NM_007194.4 |
gDNA | chr22:g.28710025A>C |
cDNA | c.827T>G |
Protein | p.I276S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_145862.2 | chr22:g.28710025A>C | c.827T>G | p.I276S | RefSeq | GRCh38/hg38 |
XM_011529843 | chr22:g.28696968A>C | c.827T>G | p.I276S | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28710025A>C | c.827T>G | p.I276S | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28710025A>C | c.827T>G | p.I276S | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28710025A>C | c.827T>G | p.I276S | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28710025A>C | c.827T>G | p.I276S | RefSeq | GRCh38/hg38 |
NM_001349956.2 | chr22:g.28696968A>C | c.827T>G | p.I276S | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28710025A>C | c.827T>G | p.I276S | RefSeq | GRCh38/hg38 |
NM_001349956.1 | chr22:g.28696968A>C | c.827T>G | p.I276S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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