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Gene | TP53 |
Variant | I195* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 I195* results in a premature truncation of the Tp53 protein at amino acid 195 of 393 (UniProt.org). I195* has not been biochemically characterized however, due to the effects of truncation mutations downstream of I195 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon6 TP53 I195* TP53 mutant TP53 inact mut TP53 I195* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674946_7674948delATCinsTAA |
cDNA | c.583_585delATCinsTAA |
Protein | p.I195* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |