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Gene | PTEN |
Variant | F341V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN F341V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F341V results in a loss of Pten phosphatase activity in an in vitro assay (PMID: 11051241) and loss of binding to PICT-1 (PMID: 15355975). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN F341V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961113T>G |
cDNA | c.1021T>G |
Protein | p.F341V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87961113T>G | c.1021T>G | p.F341V | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961113T>G | c.1021T>G | p.F341V | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961113T>G | c.1021T>G | p.F341V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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