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Gene Variant Detail

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Gene PTEN
Variant W111fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN W111fs results in a change in the amino acid sequence of the Pten protein beginning at 111 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). W111fs has not been characterized, however, due to the effects of other truncation mutations downstream of W111 (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 W111fs

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Transcript NM_000314.8
gDNA chr10:g.(87933089_87933090)
cDNA c.(331_330)
Protein p.W111fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.(87933089_87933090) c.(331_330) p.W111fs RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87933089_87933090) c.(331_330) p.W111fs RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References