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Gene PTEN
Variant V217fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN V217fs results in a change in the amino acid sequence of the Pten protein beginning at aa 217 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V217fs has not been characterized, however, due to the effects of other truncation mutations downstream of V217 (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 V217fs

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Transcript NM_000314.8
gDNA chr10:g.(87957866_87957867)
cDNA c.(649_648)
Protein p.V217fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87957866_87957867) c.(649_648) p.V217fs RefSeq GRCh38/hg38
NM_000314 chr10:g.(87957866_87957867) c.(649_648) p.V217fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87957866_87957867) c.(649_648) p.V217fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References