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Gene | CHEK1 |
Variant | K232N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK1 K232N lies within the protein kinase domain of the Chek1 protein (UniProt.org). K232N has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK1 mutant CHEK1 K232N |
Transcript | NM_001114121.2 |
gDNA | chr11:g.125635511A>C |
cDNA | c.696A>C |
Protein | p.K232N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001114121.2 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001274 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
XM_017017146 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001114121 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001244846 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
XM_024448337.1 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
XM_024448337.2 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
XM_017017146.2 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001114122 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
XM_047426311.1 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001114122.2 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
NM_001114122.3 | chr11:g.125635511A>C | c.696A>C | p.K232N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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