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Gene | CHEK1 |
Variant | R442W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK1 R442W lies within the autoinhibitory region of the Chek1 protein (UniProt.org). R442W 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 R442W |
Transcript | NM_001114121.2 |
gDNA | chr11:g.125653836C>T |
cDNA | c.1324C>T |
Protein | p.R442W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017146.2 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
NM_001114122.3 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
NM_001114122.2 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
NM_001114122 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
NM_001114121 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
XM_017017146 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
XM_024448337.1 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
XM_047426311.1 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
XM_024448337.2 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
NM_001274 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125653836C>T | c.1324C>T | p.R442W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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