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Gene PTEN
Variant Y76fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN Y76fs results in a change in the amino acid sequence of the Pten protein beginning at aa 76 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Y76fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y76 (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 Y76fs

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Transcript NM_000314.8
gDNA chr10:g.(87931061_87931062)
cDNA c.(226_225)
Protein p.Y76fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87931061_87931062) c.(226_225) p.Y76fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87931061_87931062) c.(226_225) p.Y76fs RefSeq GRCh38/hg38
NM_000314 chr10:g.(87931061_87931062) c.(226_225) p.Y76fs RefSeq GRCh38/hg38

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