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Gene CDKN2A
Variant D74N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A D74N does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74N results in a reduction in Cdk kinase inhibition in an in vitro assay and reduced ability to cause cell cycle arrest in cell culture (PMID: 10491434).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A D74N

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Transcript NM_000077.5
gDNA chr9:g.21971139C>T
cDNA c.220G>A
Protein p.D74N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517679.1 chr9:g.21970986C>T c.220G>A p.D74N RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21970986C>T c.220G>A p.D74N RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_011517679 chr9:g.21970986C>T c.220G>A p.D74N RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_005251343 chr9:g.21970986C>T c.220G>A p.D74N RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21970986C>T c.220G>A p.D74N RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
NM_000077 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971139C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21970986C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21970986C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_005251343.1 chr9:g.21970986C>T c.220G>A p.D74N RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971139C>T c.220G>A p.D74N 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