CDK12 S587Ffs*54
Gene Variant Detail

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Gene CDK12
Variant S587Ffs*54
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDK12 S587Ffs*54 indicates a shift in the reading frame starting at amino acid 587 and terminating 54 residues downstream causing a premature truncation of the 1490 amino acid Cdk12 protein (UniProt.org). S587Ffs*54 has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of S587 (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 S587Ffs*54

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Transcript NM_016507.4
gDNA chr17:g.39471591dupT
cDNA c.1759dupT
Protein p.S587Ffs*54
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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