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Gene | CDKN2A |
Variant | Y44* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A Y44* results in a premature truncation of the Cdkn2a protein at amino acid 44 of 156 (UniProt.org). Y44* has not been characterized, however, due to the effects of other truncation mutations downstream of Y44 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A Y44* |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974696G>T |
cDNA | c.132C>A |
Protein | p.Y44* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
NM_058197 | chr9:g.21974696G>T | c.132C>A | p.Y44* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A Y44* | loss of function - predicted | CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor |