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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 |