PTEN Q17Rfs*26
Gene Variant Detail

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Gene PTEN
Variant Q17Rfs*26
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN Q17Rfs*26 indicates a shift in the reading frame starting at amino acid 17 and terminating 26 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). Q17Rfs*26 has not been characterized, however, due to the effects of other truncation mutations downstream of Q17 (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 Q17Rfs*26

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Transcript NM_000314.8
gDNA chr10:g.87864519_87864520delAA
cDNA c.50_51delAA
Protein p.Q17Rfs*26
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87864519_87864520delAA c.50_51delAA p.Q17Rfs*26 RefSeq GRCh38/hg38

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