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Gene | PTEN |
Variant | D92A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN D92A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92A results in a loss of Pten phosphatase activity in yeast (PMID: 21828076) and demonstrates impaired dephosphorylation of FAK in cell culture (PMID: 10400703). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D92A |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933034A>C |
cDNA | c.275A>C |
Protein | p.D92A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933034A>C | c.275A>C | p.D92A | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933034A>C | c.275A>C | p.D92A | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933034A>C | c.275A>C | p.D92A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN D92A | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |