Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CHEK1 |
Variant | P238fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK1 P238fs results in a change in the amino acid sequence of the Chek1 protein beginning at aa 238 of 476, likely resulting in premature truncation of the functional protein (UniProt.org). P238fs has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK1 mutant CHEK1 P238fs |
Transcript | NM_001114121.2 |
gDNA | chr11:g.(125635526_125635527) |
cDNA | c.(712_711) |
Protein | p.P238fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001244846.1 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
XM_017017146.2 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001330428.1 | chr11:g.(125644160_125644161) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
XM_047426313.1 | chr11:g.(125644160_125644161) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
XM_011542563 | chr11:g.(125644160_125644161) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
XM_024448337.2 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001274 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
XM_047426311.1 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001330428.1 | chr11:g.(125644160_125644161) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001244846 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
XM_024448337.1 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001114122.2 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001114121 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
XM_017017146 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001114122.3 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
NM_001114122 | chr11:g.(125635526_125635527) | c.(712_711) | p.P238fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|