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Gene | CHEK2 |
Variant | K141T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 K141T lies within the FHA domain of the Chek2 protein (UniProt.org). K141T results in intermediate levels of Kap1 and Chek2 phosphorylation upon ionizing radiation in cell culture (PMID: 34903604), but has not been fully biochemically characterized and therefore, its effect on Chek2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 K141T |
Transcript | NM_007194.4 |
gDNA | chr22:g.28725265T>G |
cDNA | c.422A>C |
Protein | p.K141T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_145862.2 | chr22:g.28725265T>G | c.422A>C | p.K141T | RefSeq | GRCh38/hg38 |
NM_007194.3 | chr22:g.28725265T>G | c.422A>C | p.K141T | RefSeq | GRCh38/hg38 |
NM_145862.2 | chr22:g.28725265T>G | c.422A>C | p.K141T | RefSeq | GRCh38/hg38 |
XM_024452148.2 | chr22:g.28725295T>G | c.422A>C | p.K141T | RefSeq | GRCh38/hg38 |
XM_011529842.3 | chr22:g.28725295T>G | c.422A>C | p.K141T | RefSeq | GRCh38/hg38 |
NM_001349956.1 | chr22:g.28725265T>G | c.422A>C | p.K141T | RefSeq | GRCh38/hg38 |
NM_007194.4 | chr22:g.28725265T>G | c.422A>C | p.K141T | RefSeq | GRCh38/hg38 |
NM_001349956.2 | chr22:g.28725265T>G | c.422A>C | p.K141T | RefSeq | GRCh38/hg38 |
XM_024452149.2 | chr22:g.28725295T>G | c.422A>C | p.K141T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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