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Gene CDKN2A
Variant L65P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A L65P lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). L65P results in reduced binding to CDK4 (PMID: 15235029), decreased proliferation and cell cycle inhibition in culture in one study (PMID: 35001868), but retains the ability to inhibit cell proliferation in another study (PMID: 24659262), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A L65P

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Transcript NM_000077.5
gDNA chr9:g.21971165A>G
cDNA c.194T>C
Protein p.L65P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.1 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974634A>G c.194T>C p.L65P RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974634A>G c.194T>C p.L65P RefSeq GRCh38/hg38
NM_000077 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
NM_058197 chr9:g.21974634A>G c.194T>C p.L65P RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971165A>G c.194T>C p.L65P RefSeq GRCh38/hg38

Filtering

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

Sorting

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