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Gene TP53
Variant R342fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 R342fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 342 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R342fs has not been biochemically characterized, however, a truncation at R342 results in reduced nuclear localization and decreased transactivation of Tp53 targets (PMID: 16969106), and therefore, is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon10 TP53 R342fs

TP53 mutant TP53 inact mut TP53 R342fs

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Transcript NM_000546.6
gDNA chr17:g.(7670685_7670686)
cDNA c.(1024_1023)
Protein p.R342fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546 chr17:g.(7670685_7670686) c.(1024_1023) p.R342fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7670685_7670686) c.(1024_1023) p.R342fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7670685_7670686) c.(1024_1023) p.R342fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7670685_7670686) c.(1024_1023) p.R342fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7670685_7670686) c.(1024_1023) p.R342fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7670685_7670686) c.(1024_1023) p.R342fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7670685_7670686) c.(1024_1023) p.R342fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7670685_7670686) c.(1024_1023) p.R342fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7670685_7670686) c.(1024_1023) p.R342fs RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References