Gene Variant Detail

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Gene TP53
Variant Q331H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 Q331H lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). Q331H results in increased thermal stability compared to wild-type Tp53 in an in vitro assay (PMID: 20978130), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon9 TP53 Q331H

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Transcript NM_000546.6
gDNA chr17:g.7673535C>A
cDNA c.993G>T
Protein p.Q331H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673535C>A c.993G>T p.Q331H RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries