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Gene | PTEN |
Variant | F347L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN F347L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F347L is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN F347L |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965299T>C |
cDNA | c.1039T>C |
Protein | p.F347L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965299T>C | c.1039T>C | p.F347L | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965299T>C | c.1039T>C | p.F347L | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965299T>C | c.1039T>C | p.F347L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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