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Gene CDKN2A
Variant Q50H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A Q50H lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). Q50H has been identified in sequencing studies (PMID: 30325992; PMID: 26076459, PMID: 38961426), 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 Q50H

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Transcript NM_000077.5
gDNA chr9:g.21974678C>A
cDNA c.150G>T
Protein p.Q50H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
NM_058197 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
NM_000077 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
NM_001195132 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
XM_011517676 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974678C>A c.150G>T p.Q50H RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974678C>A c.150G>T p.Q50H 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