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Gene Symbol | CDK12 | ||||||||||
Synonyms | CRK7 | CRKR | CRKRS | ||||||||||
Gene Description | CDK12, cyclin dependent kinase 12, is a key regulator of transcription elongation, regulates the expression of genes involved in DNA repair, and is required for the maintenance of genomic stability (PMID: 24554720; PMID: 22012619). Loss and/or inactivation of CDK12 has been commonly observed in many solid tumor types, including prostate (PMID: 29906450, PMID: 31640893), breast, ovarian, endometrial, uterine (PMID: 30104286), and is a likely tumor suppressor (PMID: 30319007). | ||||||||||
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Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
---|---|---|---|---|
A88fs | frameshift | loss of function - predicted | CDK12 A88fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 88 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). A88fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of A88 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
E72fs | frameshift | loss of function - predicted | CDK12 E72fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 72 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). E72fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of E72 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
E928fs | frameshift | loss of function | CDK12 E928fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 928 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). E928fs confers a loss of function to the Cdk12 protein as demonstrated by an inability to interact with CycK in vitro and reduced homologous recombination repair activity in cell culture (PMID: 25712099), and loss of kinase activity in an in vitro assay (PMID: 24554720). | |
H111fs | frameshift | loss of function - predicted | CDK12 H111fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 111 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). H111fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of H111 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
inact mut | unknown | loss of function | CDK12 inact mut indicates that this variant results in a loss of function of the Cdk12 protein. However, the specific amino acid change has not been identified. | |
K46fs | frameshift | loss of function - predicted | CDK12 K46fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 46 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). K46fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of K46 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
mutant | unknown | unknown | CDK12 mutant indicates an unspecified mutation in the CDK12 gene. | |
P335fs | frameshift | loss of function - predicted | CDK12 P335fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 335 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). P335fs has not been characterized, however, due to the effects of truncation mutations downstream of P335 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
P58fs | frameshift | loss of function - predicted | CDK12 P58fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 58 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). P58fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of P58 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
R204fs | frameshift | loss of function - predicted | CDK12 R204fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 204 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). R204fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of R204 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
S1236fs | frameshift | unknown | CDK12 S1236fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 1236 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). S1236fs has been identified in the scientific literature (PMID: 33119476), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2023). | |
S343fs | frameshift | loss of function - predicted | CDK12 S343fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 343 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). S343fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of S343 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
S62fs | frameshift | loss of function - predicted | CDK12 S62fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 62 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). S62fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of S62 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
S785fs | frameshift | loss of function - predicted | CDK12 S785fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 785 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). S785fs has not been biochemically characterized, however, due to the effects of truncation mutations downstream of S785 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
T212fs | frameshift | loss of function - predicted | CDK12 T212fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 212 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). T212fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of T212 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. | |
W1459fs | frameshift | unknown | CDK12 W1459fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 1459 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). W1459fs has been identified in sequencing studies (PMID: 29367197, PMID: 32650224), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Jan 2024). | |
Y319fs | frameshift | loss of function - predicted | CDK12 Y319fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 319 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). Y319fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y319 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. |