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Gene CDKN2A
Variant D74Y
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A D74Y does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74Y is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk4 binding in culture (PMID: 19260062).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A D74Y

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Transcript NM_000077.5
gDNA chr9:g.21971139C>A
cDNA c.220G>T
Protein p.D74Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21970986C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21970986C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
NM_000077 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_011517679.1 chr9:g.21970986C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_005251343.1 chr9:g.21970986C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_011517679 chr9:g.21970986C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_005251343 chr9:g.21970986C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21970986C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971139C>A c.220G>T p.D74Y RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21970986C>A c.220G>T p.D74Y RefSeq GRCh38/hg38

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