PTEN R74Dfs*25
Gene Variant Detail

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Gene PTEN
Variant R74Dfs*25
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN R74Dfs*25 indicates a shift in the reading frame starting at amino acid 74 and terminating 25 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). R74Dfs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of R74 (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 R74Dfs*25

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Transcript NM_000314.8
gDNA chr10:g.87931056delA
cDNA c.220delA
Protein p.R74Dfs*25
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87931056delA c.220delA p.R74Dfs*25 RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.(87864170_87864247) c.(220_297) p.R74Dfs*25 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87931056delA c.220delA p.R74Dfs*25 RefSeq GRCh38/hg38

Filtering

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