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Gene PTEN
Variant C124fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN C124fs results in a change in the amino acid sequence of the Pten protein beginning at 124 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). C124fs has not been characterized, however, due to the effects of other truncation mutations downstream of C124 (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 C124fs

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Transcript NM_000314.8
gDNA chr10:g.(87933128_87933129)
cDNA c.(370_369)
Protein p.C124fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87933128_87933129) c.(370_369) p.C124fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87933130delG c.371delG p.C124fs*10 RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87933128_87933129) c.(370_369) p.C124fs 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")

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