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 | G45S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A G45S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). G45S has been identified in sequencing studies (PMID: 26960398), 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 G45S |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974695C>T |
cDNA | c.133G>A |
Protein | p.G45S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
NM_058197 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974695C>T | c.133G>A | p.G45S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|