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Gene | CHEK2 |
Variant | I221M |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CHEK2 I221M lies within the protein kinase domain of the Chek2 protein (UniProt.org). I221M results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to have no effect on Chek2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 I221M |
Transcript | NM_007194.4 |
gDNA | chr22:g.28719415G>C |
cDNA | c.663C>G |
Protein | p.I221M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011529843 | chr22:g.28703549A>C | c.663T>G | p.I221M | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28719415G>C | c.663C>G | p.I221M | RefSeq | GRCh38/hg38 |
NM_001349956.2 | chr22:g.28703549A>C | c.663T>G | p.I221M | RefSeq | GRCh38/hg38 |
NM_145862 | chr22:g.28719415G>C | c.663C>G | p.I221M | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28719415G>C | c.663C>G | p.I221M | RefSeq | GRCh38/hg38 |
NM_007194 | chr22:g.28719415G>C | c.663C>G | p.I221M | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28719415G>C | c.663C>G | p.I221M | RefSeq | GRCh38/hg38 |
NM_001349956.1 | chr22:g.28703549A>C | c.663T>G | p.I221M | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28719415G>C | c.663C>G | p.I221M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CHEK2 I221M | no effect - predicted |