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Gene CDKN2A
Variant N42H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A N42H does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42H has been identified in sequencing studies (PMID: 29615459, PMID: 24436120), 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 N42H

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Transcript NM_000077.5
gDNA chr9:g.21974704T>G
cDNA c.124A>C
Protein p.N42H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
NM_058197 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
NM_000077 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
XM_011517676 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
XM_011517675 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974704T>G c.124A>C p.N42H RefSeq GRCh38/hg38

Filtering

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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