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 | D108V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A D108V does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108V has been identified in sequencing studies (PMID: 29301828, PMID: 26919633, PMID: 35620707), 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 D108V |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971036T>A |
cDNA | c.323A>T |
Protein | p.D108V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971036T>A | c.323A>T | p.D108V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A D108V | unknown |