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Gene CDKN2A
Variant A102V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A A102V lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). A102V has been identified in the scientific literature (PMID: 9053859, PMID: 31026031, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A A102V

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Transcript NM_000077.5
gDNA chr9:g.21971054G>A
cDNA c.305C>T
Protein p.A102V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.3 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21970503G>A c.305C>T p.A102V RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21970503G>A c.305C>T p.A102V RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
NM_000077 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971054G>A c.305C>T p.A102V RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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