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Gene | CDK12 |
Variant | G1461Afs*38 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | CDK12 G1461Afs*38 indicates a shift in the reading frame starting at amino acid 1461 and terminating 38 residues downstream, resulting in premature truncation of the functional protein and extension of the 1490 aa Cdk12 protein length by nine amino acids (UniProt.org). G1461Afs*38 has been identified in the scientific literature (PMID: 35452513), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDK12 mutant CDK12 G1461Afs*38 |
Transcript | NM_016507.4 |
gDNA | chr17:g.39531225delG |
cDNA | c.4382delG |
Protein | p.G1461Afs*38 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_016507.4 | chr17:g.39531225delG | c.4382delG | p.G1461Afs*38 | RefSeq | GRCh38/hg38 |
NM_016507.3 | chr17:g.39531225delG | c.4382delG | p.G1461Afs*38 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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