Gene Variant Detail

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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*

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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
NM_000077 chr9:g.21971154C>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
NM_001195132 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
XM_011517679 chr9:g.21971001C>A c.205G>T p.E69* RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971154C>A c.205G>T p.E69* RefSeq GRCh38/hg38
XM_011517676.2 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_011517676.3 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_001195132.2 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
NM_000077.4 chr9:g.21971154C>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 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_011517679.1 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

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References