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Gene | PTEN |
Variant | S287* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN S287* results in a premature truncation of the Pten protein at aa 287 of 403 within the C2 tensin-type domain (UniProt.org). S287* has not been characterized, however, due to the effects of other truncation mutations downstream of S287 (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 S287* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960952C>A |
cDNA | c.860C>A |
Protein | p.S287* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87960952C>A | c.860C>A | p.S287* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960952C>A | c.860C>A | p.S287* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87960952C>A | c.860C>A | p.S287* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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