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Gene | PTEN |
Variant | V290fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN V290fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 290 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V290fs has not been characterized, however, due to the effects of other truncation mutations downstream of V290 (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 V290fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87960959_87960960) |
cDNA | c.(868_867) |
Protein | p.V290fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.(87960959_87960960) | c.(868_867) | p.V290fs | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87960960delG | c.868delG | p.V290fs*1 | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87960959_87960960) | c.(868_867) | p.V290fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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