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Gene PTEN
Variant K254fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN K254fs results in a change in the amino acid sequence of the Pten protein beginning at 254 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K254fs has not been characterized, however, due to the effects of other truncation mutations downstream of K254 (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 K254fs

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Transcript NM_000314.8
gDNA chr10:g.(87957977_87957978)
cDNA c.(760_759)
Protein p.K254fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.(87957977_87957978) c.(760_759) p.K254fs RefSeq GRCh38/hg38
NM_000314 chr10:g.(87957978_87960980) c.(760_888) p.K254fs*42 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87957977_87957978) c.(760_759) p.K254fs RefSeq GRCh38/hg38

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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