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Gene | CDK12 |
Variant | R882L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDK12 R882L lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). R882L results in decreased Cdk12-mediated transcriptional activation, downregulation of DNA damage response genes (PMID: 25712099), and decreased kinase activity in cultured cells (PMID: 25712099) and an in vitro assay (PMID: 24554720), but induces proliferation similar to wild-type Cdk12 in one of two tested cell lines in culture (PMID: 29533785), and therefore is predicted to lead to a loss of Cdk12 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDK12 mutant CDK12 inact mut CDK12 R882L |
Transcript | NM_016507.4 |
gDNA | chr17:g.39509740G>T |
cDNA | c.2645G>T |
Protein | p.R882L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_015083 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
NM_015083.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
NM_015083.4 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
NM_016507 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
NM_016507.3 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
NM_016507.4 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_005257458 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_005257458.4 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524892 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524892.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524893 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524893.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524893.3 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524894 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524894.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524894.3 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524895 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524895.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524895.3 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524896 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524896.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524897 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524897.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524897.3 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524898 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524898.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524898.3 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524899 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524899.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524900 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524900.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524901 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524901.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524902 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524902.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524903 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524903.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524905 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524905.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524906 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524906.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524906.3 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524907 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524907.2 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_011524907.3 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024744 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024745 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024746 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024747 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024747.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024748 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024748.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024749 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024749.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024750 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024750.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024751 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024751.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024752 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_017024752.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_024450801.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436255.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436256.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436257.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436258.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436259.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436260.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436261.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436265.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436266.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436267.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436268.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436269.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436270.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436272.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436273.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436274.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436275.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436276.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436277.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436278.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436279.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436287.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436288.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436289.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
XM_047436293.1 | chr17:g.39509740G>T | c.2645G>T | p.R882L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
No data available in table |
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