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Gene TP53
Variant H193Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 H193Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193Y is associated with reduced expression levels of CDKN1A mRNA and Fdxr protein in cell culture (PMID: 31500291), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon6 TP53 H193Y

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Transcript NM_000546.6
gDNA chr17:g.7674954G>A
cDNA c.577C>T
Protein p.H193Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_000546 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674954G>A c.577C>T p.H193Y RefSeq GRCh38/hg38

Filtering

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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