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Gene | CDK12 |
Variant | E647Kfs*8 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDK12 E647Kfs*8 indicates a shift in the reading frame starting at amino acid 647 and terminating 8 residues downstream causing a premature truncation of the 1490 amino acid Cdk12 protein (UniProt.org). E647Kfs*8 has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of E647 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDK12 mutant CDK12 inact mut CDK12 E647Kfs*8 |
Transcript | NM_016507.4 |
gDNA | chr17:g.39490564delG |
cDNA | c.1939delG |
Protein | p.E647Kfs*8 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |