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Gene | PTEN |
Variant | V54fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN V54fs results in a change in the amino acid sequence of the Pten protein beginning at aa 54 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V54fs has not been characterized, however, due to the effects of other truncation mutations downstream of V54 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN V54fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87894104_87894105) |
cDNA | c.(160_159) |
Protein | p.V54fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.(87894104_87894105) | c.(160_159) | p.V54fs | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87894104_87894105) | c.(160_159) | p.V54fs | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.(87894104_87894105) | c.(160_159) | p.V54fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN V54fs | glioblastoma | sensitive | XL147 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, XL147 inhibited tumor growth in xenograft models of a human glioblastoma cell line harboring PTEN V54fs (PMID: 25637314). | 25637314 |