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Gene | PTEN |
Variant | T348I |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN T348I lies within the C2 tensin-type domain and NOP53-interacting region of the Pten protein (UniProt.org). T348I results in decreased phosphatase activity in an in vitro assay, and increased Pten degradation, increased Akt phosphorylation, and partial reduction in the inhibition of transformation relative to wild-type Pten in cultured cells (PMID: 10468583). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN T348I |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965303C>T |
cDNA | c.1043C>T |
Protein | p.T348I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87965303C>T | c.1043C>T | p.T348I | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965303C>T | c.1043C>T | p.T348I | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87965303C>T | c.1043C>T | p.T348I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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