Gene Variant Detail

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Gene CDK12
Variant H111fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDK12 H111fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 111 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). H111fs has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of H111 (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 H111fs

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Transcript NM_016507.4
gDNA chr17:g.(39462401_39462402)
cDNA c.(331_330)
Protein p.H111fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011524905 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436289.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436277.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
NM_016507.4 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524895.3 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524892.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024750.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524898.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
NM_015083.4 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436269.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024747.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524906.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524896 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436282.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436262.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524895.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436258.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024748.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524900.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024751.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436266.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024744 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436284.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436274.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024748 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436268.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436255.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024746 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524897.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436276.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_005257456.5 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524900 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524898 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436263.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436286.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524902.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436260.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524901.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024751 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524893 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524894.3 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436257.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524905.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024752.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436280.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436265.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436279.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436281.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436264.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436291.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
NM_015083.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436259.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
NM_016507 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524895 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524903 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
NM_015083 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524899.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524907 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524892 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524907.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436292.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524893.3 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524899 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524894.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_005257458.4 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524898.3 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436272.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024753.3 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436290.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436270.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024745 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436288.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524893.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524906.3 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024752 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524907.3 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_005257456 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524896.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024749 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524906 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436273.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436253.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436256.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524894 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436278.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_005257458 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
NM_016507.3 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436267.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024749.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024750 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_005257456.4 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436285.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_024450801.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436275.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436283.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524903.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524902 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436287.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524897.3 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524897 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024747 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024753 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_011524901 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_017024753.2 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436261.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38
XM_047436293.1 chr17:g.(39462401_39462402) c.(331_330) p.H111fs RefSeq GRCh38/hg38

Filtering

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  • 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")

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