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Gene | CDK12 |
Variant | R701* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDK12 R701* results in a premature truncation of the Cdk12 protein at amino acid 701 of 1490 (UniProt.org). R701* results in loss of binding to Ccnk in cell culture (PMID: 39321214), and therefore, is predicted to lead to a loss of Cdk12 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDK12 mutant CDK12 inact mut CDK12 R701* |
Transcript | NM_016507.4 |
gDNA | chr17:g.39490726A>T |
cDNA | c.2101A>T |
Protein | p.R701* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047436276.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436288.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436289.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_011524897.3 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436258.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436287.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436257.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_011524894.3 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436274.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
NM_016507.4 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436255.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436259.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436267.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_011524893.3 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436273.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436275.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436272.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_011524906.3 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436270.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436269.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436277.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436260.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436265.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436293.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_011524898.3 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_011524907.3 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
NM_015083.4 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436256.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436261.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436279.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436278.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436266.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_011524895.3 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
XM_047436268.1 | chr17:g.39490726A>T | c.2101A>T | p.R701* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CDK12 R701* | prostate cancer | sensitive | Rucaparib | Preclinical - Cell culture | Actionable | In a preclinical study, Rubraca (rucaparib) treatment inhibited viability of a CDK12 knockout prostate cancer cell line expressing CDK12 R701* in culture (PMID: 39321214). | 39321214 |