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TP53 H168R - Gene Variant Detail

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Gene TP53
Variant H168R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 H168R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H168R confers a loss of function to the Tp53 protein, as demonstrated by decreased Tp53 transactivation activity and decreased induction of apoptosis in cell culture (PMID: 18996393).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 H168R

TP53 mutant TP53 inact mut TP53 H168R

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Transcript NM_000546.6
gDNA chr17:g.7675109T>C
cDNA c.503A>G
Protein p.H168R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114.2 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_000546 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001126113 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675109T>C c.503A>G p.H168R RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675109T>C c.503A>G p.H168R 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
ALK wild-type TP53 H168R neuroblastoma no benefit Crizotinib + Cyclophosphamide + Topotecan Preclinical - Cell line xenograft Actionable In a preclinical study, Xalkori (crizotinib) did not improve the effect of Topotecan and Cytoxan (cyclophosphamide) on tumor growth suppression in xenograft models of a human neuroblastoma cell line harboring wild-type ALK and TP53 H168R (PMID: 26438783). 26438783