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Gene TP53
Variant E349fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions TP53 E349fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 349 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). E349fs has been identified in sequencing studies (PMID: 24140581, PMID: 36741442), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon10 TP53 E349fs

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Transcript NM_000546.6
gDNA chr17:g.(7670664_7670665)
cDNA c.(1045_1044)
Protein p.E349fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407265.1 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7670664_7670665) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7670664_7670665) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7670664_7670665) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7670664_7670665) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7670664_7670665) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001126118 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001276760.1 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7670664_7670665) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001276761.3 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001276761 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001276761.1 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7670664_7670665) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7670664_7670665) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001276760 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001126118.1 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.(7669629_7669630) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7670664_7670665) c.(1045_1044) p.E349fs RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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