Gene Variant Detail

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Gene CDK12
Variant E928fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions 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).
Associated Drug Resistance
Category Variants Paths

CDK12 mutant CDK12 inact mut CDK12 E928fs

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Transcript NM_016507.4
gDNA chr17:g.(39515743_39515744)
cDNA c.(2782_2781)
Protein p.E928fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011524899.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524893.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024751 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436273.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024746 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436266.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024747.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524895.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024748.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524898.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524906.3 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524901 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024749.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524895.3 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436255.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524894.3 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_005257458 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024747 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436287.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436269.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524901.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024744 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524906 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524898 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024750.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524902 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524906.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
NM_015083.4 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524894 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024752 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
NM_016507 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524905 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436289.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436272.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
NM_015083.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436257.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524897 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524903 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436261.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436267.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436270.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436274.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024750 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436260.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
NM_016507.3 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524898.3 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436288.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436279.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524896.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
NM_015083 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524903.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524902.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524897.3 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524907.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524905.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524907.3 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524896 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524893 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524900 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524895 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024752.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024745 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436258.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436259.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_005257458.4 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524907 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524894.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024751.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436275.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024749 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436265.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524897.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436256.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524899 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524900.2 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_017024748 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436278.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_024450801.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_011524893.3 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436268.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436277.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
NM_016507.4 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq GRCh38/hg38
XM_047436276.1 chr17:g.(39515743_39515744) c.(2782_2781) p.E928fs RefSeq 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.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References