Gene Variant Detail

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Gene TP53
Variant L114fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 L114fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 114 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). L114fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of L114 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon4 TP53 L114fs

TP53 mutant TP53 inact mut TP53 L114fs

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Transcript NM_000546.6
gDNA chr17:g.(7676029_7676030)
cDNA c.(340_339)
Protein p.L114fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407266.1 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001126113 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7676029_7676030) c.(340_339) p.L114fs RefSeq GRCh38/hg38

Filtering

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries