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Gene | PTEN |
Variant | F90Lfs*90 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN F90Lfs*90 indicates a shift in the reading frame starting at amino acid 90 and terminating 90 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). F90Lfs*90 has not been characterized, however, due to the effects of other truncation mutations downstream of F90 (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 F90Lfs*90 |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87933027_87952165) |
cDNA | c.(268_540) |
Protein | p.F90Lfs*90 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |