Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene CDK12
Variant S475Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDK12 S475Y does not lie within any known functional domains of the Cdk12 protein (UniProt.org). S475Y has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

CDK12 mutant CDK12 S475Y

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_016507.4
gDNA chr17:g.39471256C>A
cDNA c.1424C>A
Protein p.S475Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047436259.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524897 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436267.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524906 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524897.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524898.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436278.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524896 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
NM_016507 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524895.3 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436287.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024749 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436262.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_047436284.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_047436268.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024748.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436286.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_047436282.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_011524895.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024748 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024744 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524894.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436275.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436290.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_017024752 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024753.3 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_011524902.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
NM_015083.4 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436257.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436265.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524895 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436269.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436274.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_005257458 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524893.3 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524892.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524907.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436261.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436276.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524893 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436273.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024747 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524893.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024750 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436270.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024746 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024753 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_011524906.3 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436281.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_047436291.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_005257456.5 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_047436256.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024747.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_005257458.4 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436292.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_011524903.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436289.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524901.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436255.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024749.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436283.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_017024751.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436266.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524899.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524898.3 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436293.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524906.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524901 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436280.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_011524894 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524903 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024750.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
NM_015083.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524900.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436260.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024751 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024752.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436258.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524905 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_005257456.4 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_011524894.3 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024745 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436288.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524899 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524892 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_005257456 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_011524898 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436285.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_011524902 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
NM_016507.3 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436264.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_011524900 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524905.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
NM_016507.4 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524896.2 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436279.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436253.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_047436277.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524907.3 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436272.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_047436263.1 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38
XM_024450801.1 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
NM_015083 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524897.3 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_011524907 chr17:g.39471256C>A c.1424C>A p.S475Y RefSeq GRCh38/hg38
XM_017024753.2 chr17:g.39471259_39471260delCAinsAT c.1424_1425delCAinsAT p.S475Y RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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