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Gene | TP53 |
Variant | N131fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 N131fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 131 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). N131fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of N131 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 N131fs TP53 mutant TP53 inact mut TP53 N131fs |
Transcript | NM_000546.6 |
gDNA | chr17:g.(7675221_7675222) |
cDNA | c.(391_390) |
Protein | p.N131fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |