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Gene | CDK12 |
Variant | A1117E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDK12 A1117E does not lie within any known functional domains of the Cdk12 protein (UniProt.org). A1117E has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDK12 mutant CDK12 A1117E |
Transcript | NM_016507.4 |
gDNA | chr17:g.39525906C>A |
cDNA | c.3350C>A |
Protein | p.A1117E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011524893 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524902 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024750.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
NM_015083 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024747 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524895.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436257.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024747.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524902.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436278.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524901 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524907 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
NM_016507.3 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524898.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524900 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436273.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524897.3 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024751.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524897 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024749.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436265.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524903.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024745 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024748 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524894.3 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436258.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024752.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_024450801.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524895.3 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436279.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524905 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
NM_015083.4 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524895 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524894.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436277.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524898.3 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436275.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024751 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436256.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524906.3 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024746 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436274.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
NM_016507.4 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024752 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524903 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436269.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524900.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524899 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524906.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024748.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524906 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_005257458.4 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436266.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524893.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436270.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524893.3 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436259.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524907.3 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024750 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024749 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524896.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436267.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524897.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524894 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436289.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524905.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524907.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436261.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
NM_016507 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436260.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436287.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_017024744 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524899.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436272.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524896 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
NM_015083.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436276.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524901.2 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436288.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_005257458 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436255.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_011524898 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
XM_047436268.1 | chr17:g.39525906C>A | c.3350C>A | p.A1117E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CDK12 mutant | prostate cancer | predicted - sensitive | unspecified PD-1 antibody | Case Reports/Case Series | Actionable | In a clinical study, 50% (2/4) of prostate cancer patients with mutant CDK12 responded to an unspecified checkpoint inhibitor immunotherapy and had a corresponding decrease in prostate specific antigen (PMID: 29906450). | 29906450 |