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Gene TP53
Variant R337H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R337H lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). R337H demonstrates decreased Tp53 tetramerization and transactivation activity in cell culture (PMID: 19454241, PMID: 25584008), decreased transactivation activity and expression of DNA damage markers and increased tumorigenesis in mice harboring the corresponding mouse allele (PMID: 30042151), results in increased Tp53 nuclear accumulation in patient samples (PMID: 26452166), and has a pH-dependent effect on Tp53 stability and activity (PMID: 25584008, PMID: 11753428).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon10 TP53 R337H

TP53 mutant TP53 inact mut TP53 R337H

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Transcript NM_000546.6
gDNA chr17:g.7670699C>T
cDNA c.1010G>A
Protein p.R337H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.5 chr17:g.7670699C>T c.1010G>A p.R337H RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673249_7673250delGAinsAT c.1010_1011delGAinsAT p.R337H RefSeq GRCh38/hg38
NM_000546 chr17:g.7670699C>T c.1010G>A p.R337H RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7670699C>T c.1010G>A p.R337H RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7670699C>T c.1010G>A p.R337H RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7670699C>T c.1010G>A p.R337H RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673249_7673250delGAinsAT c.1010_1011delGAinsAT p.R337H RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7670699C>T c.1010G>A p.R337H RefSeq GRCh38/hg38
NM_001126112 chr17:g.7670699C>T c.1010G>A p.R337H RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673249_7673250delTCinsAT c.1010_1011delGAinsAT p.R337H RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7670699C>T c.1010G>A p.R337H RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7670699C>T c.1010G>A p.R337H RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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 R337H loss of function