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Gene | PTEN |
Variant | T232A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN T232A lies within the C2 tensin-type domain of the Pten protein (UniProt.org). T232A demonstrates binding to Dlc1 and p85 (PMID: 26166433) and protein stability similar to wild-type Pten, but, results in an intermediate ability to rescue spheroid formation in cell culture (PMID: 32366478), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN T232A |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957912A>G |
cDNA | c.694A>G |
Protein | p.T232A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87957912A>G | c.694A>G | p.T232A | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957912A>G | c.694A>G | p.T232A | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957912A>G | c.694A>G | p.T232A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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