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Gene TP53
Variant R175H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R175H is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R175H leads to increased Nek2 expression in culture (PMID: 35088582) and results in a loss of DNA binding, decreased activation of Tp53 targets and interferes with activation by wild-type Tp53, resistance to apoptosis, failure of G1 arrest, decreased genomic stability, promotes tumorigenesis, proliferation, migration, invasion, and stability, and additionally confers a gain of function to Tp53, resulting in aberrant activation of gene transcription and enhanced cell migration (PMID: 10713666, PMID: 22114072, PMID: 19881536, PMID: 14743206, PMID: 31395785, PMID: 37030635).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 R175X TP53 R175H

TP53 mutant TP53 inact mut TP53 R175H

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Transcript NM_000546.6
gDNA chr17:g.7675088C>T
cDNA c.524G>A
Protein p.R175H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001126113 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675088C>T c.524G>A p.R175H RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675088C>T c.524G>A p.R175H 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 Protein Effect Treatment Approaches
TP53 R175H loss of function p53 Activator p53 Gene Therapy