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 | G289* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK1 G289* results in a premature truncation of the Chek1 protein at amino acid 289 of 476 (UniProt.org). G289* 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 G289* |
Transcript | NM_001114121.2 |
gDNA | chr11:g.125643842G>T |
cDNA | c.865G>T |
Protein | p.G289* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017146.2 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
XM_024448337.1 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001114122 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001244846 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001114122.3 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001114122.2 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
XM_017017146 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001114121 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
XM_024448337.2 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
XM_047426311.1 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001274 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125643842G>T | c.865G>T | p.G289* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|