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Gene | CDKN2A |
Variant | R87P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A R87P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R87P confers a loss of function to the Cdkn2a protein as demonstrated by a reduction in Cdk4 and Cdk6 binding as well as loss of cell cycle control (PMID: 10491434). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A R87P |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971099C>G |
cDNA | c.260G>C |
Protein | p.R87P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077.4 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974568_21974569delAGinsCC | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
XM_011517679.1 | chr9:g.21970946_21970947delAGinsCC | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
NM_001363763.2 | chr9:g.21970946_21970947delAGinsCC | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
XM_047422598.1 | chr9:g.21970946_21970947delAGinsCC | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
NM_058195.4 | chr9:g.21971142C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
NM_058197 | chr9:g.21974568_21974569delCTinsGG | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
XM_047422596.1 | chr9:g.21970946_21970947delAGinsCC | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
XM_011517679 | chr9:g.21970946_21970947delCTinsGG | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
NM_058195.3 | chr9:g.21971142C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974568_21974569delAGinsCC | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
XM_005251343.1 | chr9:g.21970946_21970947delAGinsCC | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
XM_047422597.1 | chr9:g.21970946_21970947delAGinsCC | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971099C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
NM_058195 | chr9:g.21971142C>G | c.260G>C | p.R87P | RefSeq | GRCh38/hg38 |
XM_005251343 | chr9:g.21970946_21970947delCTinsGG | c.259_260delAGinsCC | p.R87P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A R87P | loss of function |