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Gene CDK12
Variant S1236fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CDK12 S1236fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 1236 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). S1236fs has been identified in the scientific literature (PMID: 33119476), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

CDK12 mutant CDK12 S1236fs

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Transcript NM_016507.4
gDNA chr17:g.(39526261_39526262)
cDNA c.(3706_3705)
Protein p.S1236fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011524906.3 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524899.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436289.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524896.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_005257458.4 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_024450801.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_017024750.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
NM_015083.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436259.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436269.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524906.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524907.3 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_017024748.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_017024747.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524895.3 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436287.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524893.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436256.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
NM_016507.3 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436273.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436277.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436272.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436258.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_017024749.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436274.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524897.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524900.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524895.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
NM_016507.4 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436266.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524905.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436265.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436270.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524894.3 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436267.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436276.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436255.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436278.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436260.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436288.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524898.3 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524907.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436257.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
NM_015083.4 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436261.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436279.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524898.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524893.3 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524897.3 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524903.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524902.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436268.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_017024751.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_047436275.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_017024752.1 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524894.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs RefSeq GRCh38/hg38
XM_011524901.2 chr17:g.(39526261_39526262) c.(3706_3705) p.S1236fs 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
  • 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
CDK12 S1236fs triple-receptor negative breast cancer predicted - sensitive Olaparib Case Reports/Case Series Actionable In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment resulted in an unconfirmed partial response with a 33% tumor size reduction in a patient with metastatic triple negative breast cancer harboring a somatic CDK12 S1236fs mutation (PMID: 33119476; NCT03344965). 33119476