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Gene | PTEN |
Variant | L70V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN L70V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L70V leads to impaired developmental growth in flies, and reduced Pten protein stability and impaired suppression of Akt phosphorylation in cell culture (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L70V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87925556C>G |
cDNA | c.208C>G |
Protein | p.L70V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87925556C>G | c.208C>G | p.L70V | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87925556C>G | c.208C>G | p.L70V | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87925556C>G | c.208C>G | p.L70V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN L70V | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |