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Gene | PTEN |
Variant | Y346F |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PTEN Y346F lies within the C2 tensin-type domain of the Pten protein (UniProt.org). Y346F demonstrates increased Pten protein stability, but suppression of Akt phosphorylation similar to wild-type Pten in cell culture, and leads to normal developmental growth in flies (PMID: 32350270), and therefore, is predicted to have no effect on Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN Y346F |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965297A>T |
cDNA | c.1037A>T |
Protein | p.Y346F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87965297A>T | c.1037A>T | p.Y346F | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965297A>T | c.1037A>T | p.Y346F | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87965297A>T | c.1037A>T | p.Y346F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN Y346F | no effect - predicted |