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Gene | CDKN2A |
Variant | D74N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A D74N does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74N results in a reduction in Cdk kinase inhibition in an in vitro assay and reduced ability to cause cell cycle arrest in cell culture (PMID: 10491434). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A D74N |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971139C>T |
cDNA | c.220G>A |
Protein | p.D74N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005251343 | chr9:g.21970986C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_047422596.1 | chr9:g.21970986C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_011517679.1 | chr9:g.21970986C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_047422597.1 | chr9:g.21970986C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_011517679 | chr9:g.21970986C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
NM_001363763.2 | chr9:g.21970986C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_005251343.1 | chr9:g.21970986C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971139C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
XM_047422598.1 | chr9:g.21970986C>T | c.220G>A | p.D74N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A D74N | loss of function |