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Gene | CDKN2A |
Variant | E69* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A E69* results in a premature truncation of the Cdkn2a protein at amino acid 69 of 156 (UniProt.org). E69* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk binding (PMID: 8668202). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A E69* |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971154C>A |
cDNA | c.205G>T |
Protein | p.E69* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011517676.2 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_011517679.1 | chr9:g.21971001C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_011517679 | chr9:g.21971001C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_047422597.1 | chr9:g.21971001C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_047422598.1 | chr9:g.21971001C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_005251343 | chr9:g.21971001C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_047422596.1 | chr9:g.21971001C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_005251343.1 | chr9:g.21971001C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
NM_001363763.2 | chr9:g.21971001C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971154C>A | c.205G>T | p.E69* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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