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Gene | PTEN |
Variant | V351* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN V351* results in a premature truncation of the Pten protein at amino acid 351 of 403 (UniProt.org). V351* demonstrates phosphatase activity and inhibition of Akt phosphorylation similar to wild-type, but results in decreased Pten protein stability and reduced ability to inhibit transformation in culture (PMID: 10468583), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN V351* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965311_87965312delGTinsTA |
cDNA | c.1051_1052delGTinsTA |
Protein | p.V351* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965311_87965312delGTinsTA | c.1051_1052delGTinsTA | p.V351* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965311_87965312delGTinsTA | c.1051_1052delGTinsTA | p.V351* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965311_87965312delGTinsTA | c.1051_1052delGTinsTA | p.V351* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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