CDKN2A E120*
Gene Variant Detail

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Gene CDKN2A
Variant E120*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A E120* results in a premature truncation of the Cdkn2a protein at amino acid 120 of 156 (UniProt.org). E120* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a loss of Cdk binding in an in vitro assay (PMID: 8668202).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A E120*

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Transcript NM_000077.5
gDNA chr9:g.21971001C>A
cDNA c.358G>T
Protein p.E120*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21970450C>A c.358G>T p.E120* RefSeq GRCh38/hg38
NM_000077 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21970450C>A c.358G>T p.E120* RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971001C>A c.358G>T p.E120* RefSeq GRCh38/hg38

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