CDKN2A D74A
Gene Variant Detail

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Gene CDKN2A
Variant D74A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A D74A does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74A confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 35001868).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A D74A

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Transcript NM_000077.5
gDNA chr9:g.21971138T>G
cDNA c.221A>C
Protein p.D74A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.5 chr9:g.21971138T>G c.221A>C p.D74A RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971138T>G c.221A>C p.D74A RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971138T>G c.221A>C p.D74A RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971138T>G c.221A>C p.D74A RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971138T>G c.221A>C p.D74A RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971138T>G c.221A>C p.D74A RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21970985T>G c.221A>C p.D74A RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971138T>G c.221A>C p.D74A RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21970985T>G c.221A>C p.D74A RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21970985T>G c.221A>C p.D74A RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971138T>G c.221A>C p.D74A RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21970985T>G c.221A>C p.D74A RefSeq GRCh38/hg38

Filtering

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