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Gene | PTEN |
Variant | L265fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L265fs results in a change in the amino acid sequence of the Pten protein beginning at aa 265 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L265fs has not been characterized, however, due to the effects of other truncation mutations downstream of L265 (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 L265fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87958010_87958011) |
cDNA | c.(793_792) |
Protein | p.L265fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |