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Gene | PTEN |
Variant | T382S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN T382S does not lie within any known functional domains of the Pten protein (UniProt.org). T382S demonstrates reduced Pten protein stability and fails to rescue spheroid formation in cell culture (PMID: 32366478). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN T382S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965405C>G |
cDNA | c.1145C>G |
Protein | p.T382S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965405C>G | c.1145C>G | p.T382S | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965405C>G | c.1145C>G | p.T382S | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965405C>G | c.1145C>G | p.T382S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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