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Gene CDKN2A
Variant E69G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A E69G lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). The functional effect of E69G is conflicting as it results in loss of Cdk4 and Cdk6 binding and aberrant proliferation of cells in culture (PMID: 19260062, PMID: 20340136), but inhibits proliferation and cell cycle progression to similar levels of wild-type protein in another study (PMID: 35001868), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A E69G

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Transcript NM_000077.5
gDNA chr9:g.21971153T>C
cDNA c.206A>G
Protein p.E69G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005251343.1 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_005251343 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_000077 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517679 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517679.1 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38

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