Gene Variant Detail

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Gene CDK12
Variant P250H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDK12 P250H does not lie within any known functional domains of the Cdk12 protein (UniProt.org). P250H has been identified in sequencing studies (PMID: 27573823), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

CDK12 mutant CDK12 P250H

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Transcript NM_016507.4
gDNA chr17:g.39462820C>A
cDNA c.749C>A
Protein p.P250H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017024750.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524894.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524898.3 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436280.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436278.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524896 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024750 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024749 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524897.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024746 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436267.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436268.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
NM_015083 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524900.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436286.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436292.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024744 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524897 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524893.3 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436260.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436266.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524907.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524899.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524903 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436276.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524898 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024747.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_024450801.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524901 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436290.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024753.3 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024748 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524895.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_005257456.4 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436257.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436279.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524907.3 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524903.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524902 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524906.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_005257456.5 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524896.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524905 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
NM_016507.4 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024745 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436259.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
NM_016507.3 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524902.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_005257458.4 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024753 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524897.3 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524907 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436263.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436274.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524894 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436275.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524893.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524905.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436258.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524894.3 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024747 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024753.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_005257458 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436293.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436281.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436284.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436288.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_005257456 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524901.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436272.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436269.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436255.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
NM_015083.4 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436253.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524892.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524895 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524893 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436291.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524892 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436270.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524899 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436289.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024751 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436265.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
NM_016507 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024751.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024752.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
NM_015083.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436287.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436262.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024748.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436256.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524900 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436264.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436261.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436277.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436273.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436285.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436282.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_047436283.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024752 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524898.2 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_017024749.1 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524895.3 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524906.3 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38
XM_011524906 chr17:g.39462820C>A c.749C>A p.P250H RefSeq GRCh38/hg38

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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 )
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  • 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