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Gene | CDKN2A |
Variant | S56N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A S56N lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). S56N has been identified in the scientific literature (PMID: 9414654, PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A S56N |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971192C>T |
cDNA | c.167G>A |
Protein | p.S56N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011517676.2 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971192C>T | c.167G>A | p.S56N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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