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@genomenon.com

Gene CDKN2A
Variant P75S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A P75S does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). P75S has been identified in the scientific literature (PMID: 30709382, PMID: 36995892), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A P75S

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_000077.5
gDNA chr9:g.21971136G>A
cDNA c.223C>T
Protein p.P75S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
NM_000077 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971136G>A c.223C>T p.P75S 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