Gene Variant Detail

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Gene TP53
Variant Y234N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 Y234N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y234N results in decreased induction of PUMA and p21 expression, and induction of BAX expression comparable to wild-type protein in a patient sample (PMID: 19850740), 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 exon7 TP53 Y234N

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Transcript NM_000546.6
gDNA chr17:g.7674263A>T
cDNA c.700T>A
Protein p.Y234N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_000546 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674263A>T c.700T>A p.Y234N RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References