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Gene | TP53 |
Variant | Q331* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 Q331* results in a premature truncation of the Tp53 protein at amino acid 331 of 393 (UniProt.org). Q331* results in loss of transcriptional activity compared to wild-type Tp53 in a reporter assay (PMID: 20080630), and therefore, is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon9 TP53 Q331* TP53 mutant TP53 inact mut TP53 Q331* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673537G>A |
cDNA | c.991C>T |
Protein | p.Q331* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |