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Gene PTEN
Variant D116fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN D116fs results in a change in the amino acid sequence of the Pten protein beginning at 116 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). D116fs has not been characterized, however, due to the effects of other truncation mutations downstream of D116 (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 D116fs

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Transcript NM_000314.8
gDNA chr10:g.(87933104_87933105)
cDNA c.(346_345)
Protein p.D116fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87933104_87933105) c.(346_345) p.D116fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87933107delC c.348delC p.D116fs*18 RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87933104_87933105) c.(346_345) p.D116fs RefSeq GRCh38/hg38

Filtering

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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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries