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Gene | TP53 |
Variant | N288D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 N288D lies within the DNA-binding domain and HIPK1, ZNF385A, AXIN1 and E4F1-interacting region of the Tp53 protein (PMID: 15510160, UniProt.org). N288D results in decreased Tp53 transcriptional activity in yeast (PMID: 12909720), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 N288D |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673758T>C |
cDNA | c.862A>G |
Protein | p.N288D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |