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Gene | PTEN |
Variant | E242fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN E242fs results in a change in the amino acid sequence of the Pten protein beginning at 242 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E242fs has not been characterized, however, due to the effects of other truncation mutations downstream of E242 (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 E242fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87957941_87957942) |
cDNA | c.(724_723) |
Protein | p.E242fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87957941dupT | c.723dupT | p.E242fs*1 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87957941_87957942) | c.(724_723) | p.E242fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87957941_87957942) | c.(724_723) | p.E242fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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