Gene Variant Detail

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Gene CDK12
Variant L996F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDK12 L996F lies within the protein kinase domain of the Cdk12 protein (UniProt.org). L996F results in loss of Cdk12 binding to CycK, decreased Cdk12 kinase activity in an in vitro assay, and reduced transcriptional activity in a reporter assay (PMID: 25712099).
Associated Drug Resistance
Category Variants Paths

CDK12 mutant CDK12 inact mut CDK12 L996F

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Transcript NM_016507.4
gDNA chr17:g.39519980A>T
cDNA c.2988A>T
Protein p.L996F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011524905 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436273.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436272.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436264.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_011524907.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436278.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436266.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_005257456 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_011524907.3 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524897.3 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024748.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524894.3 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436262.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_011524894 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436285.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_047436259.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524896.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024751 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524901.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436261.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524893.3 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436282.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_047436283.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_011524899 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
NM_016507 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436263.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_011524895 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_005257458 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436290.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_017024749 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436274.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024747.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524906.3 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524897 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524901 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
NM_015083 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436281.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_017024747 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524899.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436253.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_047436279.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_024450801.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024752.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_005257456.4 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_047436277.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024750.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524902 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524906 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
NM_015083.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524907 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524902.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436275.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524900 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436289.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524897.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524893.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024751.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024744 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436288.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436256.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436258.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024750 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524898.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436255.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024753 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_011524895.3 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436265.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524905.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436267.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436292.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_017024752 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436284.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_017024753.3 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_011524898.3 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436269.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
NM_016507.4 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
NM_015083.4 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_005257456.5 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_047436270.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024749.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024745 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524900.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524906.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024753.2 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_047436276.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436286.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_047436260.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024746 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524903.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_017024748 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436268.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_005257458.4 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524894.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
NM_016507.3 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436257.1 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524895.2 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436280.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_011524896 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524903 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436291.1 chr17:g.39519983G>T c.2988G>T p.L996F RefSeq GRCh38/hg38
XM_011524893 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_011524898 chr17:g.39519980A>T c.2988A>T p.L996F RefSeq GRCh38/hg38
XM_047436287.1 chr17:g.39519980A>T c.2988A>T p.L996F 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

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  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References