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Gene | PTEN |
Variant | E288* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN E288* results in a premature truncation of the Pten protein at amino acid 288 of 403 (UniProt.org). E288* has not been characterized, however, due to the effects of other truncation mutations downstream of E288 (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 E288* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960954G>T |
cDNA | c.862G>T |
Protein | p.E288* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87960954G>T | c.862G>T | p.E288* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960954G>T | c.862G>T | p.E288* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87960954G>T | c.862G>T | p.E288* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN E288* | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |