CDK12 R204fs
Gene Variant Detail

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Gene CDK12
Variant R204fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions 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.
Associated Drug Resistance
Category Variants Paths

CDK12 mutant CDK12 inact mut CDK12 R204fs

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Transcript NM_016507.4
gDNA chr17:g.(39462680_39462681)
cDNA c.(610_609)
Protein p.R204fs
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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