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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 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674263A>T |
cDNA | c.700T>A |
Protein | p.Y234N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |