Gene Variant Detail

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Gene PTEN
Variant K254Rfs*42
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN K254Rfs*42 indicates a shift in the reading frame starting at amino acid 254 and terminating 42 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). K254Rfs*42 has not been biochemically characterized, but results in increased transformation ability in two different cell lines (PMID: 29533785), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN K254fs PTEN K254Rfs*42

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Transcript NM_000314.8
gDNA chr10:g.(87957978_87960980)
cDNA c.(760_888)
Protein p.K254Rfs*42
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.(87957978_87960980) c.(760_888) p.K254Rfs*42 RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87957978_87960980) c.(760_888) p.K254Rfs*42 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87957978_87960980) c.(760_888) p.K254Rfs*42 RefSeq GRCh38/hg38

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