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Gene | CDKN2A |
Variant | P81T |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A P81T lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). P81T is predicted to lead to a loss of Cdkn2a protein function as demonstrated by reduced ability to suppress reactive oxygen species (ROS) activity and regulate the cell cycle in cultured cells (PMID: 23190892). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A P81T |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971118G>T |
cDNA | c.241C>A |
Protein | p.P81T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011517675.3 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971118G>T | c.241C>A | p.P81T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A P81T | loss of function - predicted |