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| Gene | CDK12 |
| Variant | E72fs |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | CDK12 E72fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 72 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). E72fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of E72 (PMID: 24554720, PMID: 25712099), is predicted to lead to a loss of Cdk12 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
CDK12 mutant CDK12 inact mut CDK12 E72fs |
| Transcript | NM_016507.4 |
| gDNA | chr17:g.(39462284_39462285) |
| cDNA | c.(214_213) |
| Protein | p.E72fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047436290.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_005257456 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524901 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024749 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436266.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| NM_016507.4 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024751 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524900.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524897.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_005257458 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436291.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524903 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524907.3 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024747 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024749.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436269.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436285.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436268.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_024450801.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024752 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_005257456.4 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524898.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436284.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524905.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524905 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436261.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436265.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436273.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436264.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524894.3 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024748.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524894 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436293.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024747.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524906 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024744 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524899 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_005257458.4 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| NM_015083.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524896.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436267.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524894.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024750.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436275.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| NM_015083 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436272.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524903.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436283.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436292.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436289.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524906.3 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024753.3 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436259.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524902 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024751.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524898.3 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524893.3 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024752.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524897.3 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524907 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524900 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436257.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436277.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524893.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524892.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436287.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524907.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524906.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436256.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436262.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436263.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436270.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024753 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436278.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524898 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| NM_016507.3 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024748 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436276.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524896 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524901.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524893 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024746 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524895 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| NM_016507 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436281.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| NM_015083.4 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436253.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_005257456.5 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436282.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524892 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524899.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024745 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436258.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436288.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524895.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524895.3 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436274.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024750 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524902.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436279.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436280.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_017024753.2 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_011524897 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436255.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436260.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| XM_047436286.1 | chr17:g.(39462284_39462285) | c.(214_213) | p.E72fs | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|