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Gene PTEN
Variant I122fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN I122fs results in a change in the amino acid sequence of the Pten protein beginning at 122 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). I122fs has not been characterized, however, due to the effects of other truncation mutations downstream of I122 (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 I122fs

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Transcript NM_000314.8
gDNA chr10:g.(87933122_87933123)
cDNA c.(364_363)
Protein p.I122fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87933122_87933123) c.(364_363) p.I122fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87933122_87933123) c.(364_363) p.I122fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87933124_87933125insGTAG c.365_366insGTAG p.I122fs*2 RefSeq GRCh38/hg38

Filtering

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