Gene Variant Detail

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Gene PTEN
Variant A126fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN A126fs results in a change in the amino acid sequence of the Pten protein beginning at 126 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). A126fs has not been characterized, however, due to the effects of other truncation mutations downstream of A126 (PMID: 10468583), is predicted to result in a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN A126fs

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Transcript NM_000314.6
gDNA chr10:g.(87933134_87933135)
cDNA c.(376_375)
Protein p.A126fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933136delC c.377delC p.A126fs*8 RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.(87864325_87864326) c.(376_375) p.A126fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87933134_87933135) c.(376_375) p.A126fs RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864325_87864326insAGCCCCCCCCCCCCCCCCCCATA c.375_376insAGCCCCCCCCCCCCCCCCCCATA p.A126fs*8 RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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