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Gene | PTEN |
Variant | H118fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN H118fs results in a change in the amino acid sequence of the Pten protein beginning at 118 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). H118fs has not been characterized, however, due to the effects of other truncation mutations downstream of H118 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN H118fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87933110_87933111) |
cDNA | c.(352_351) |
Protein | p.H118fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.(87933110_87933111) | c.(352_351) | p.H118fs | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933112dupA | c.353dupA | p.H118fs*8 | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87933110_87933111) | c.(352_351) | p.H118fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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