Gene Variant Detail

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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

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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_011517676.2 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
NM_000077.5 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
NM_001195132.1 chr9:g.21971136G>A c.223C>T p.P75S RefSeq GRCh38/hg38
XM_011517676 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 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_001195132.2 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

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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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