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Gene | PTEN |
Variant | T348S |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PTEN T348S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). T348S demonstrates reduced Pten protein stability, but suppression of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 32350270), and therefore, is predicted to have no effect on Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN T348S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965302A>T |
cDNA | c.1042A>T |
Protein | p.T348S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87965302A>T | c.1042A>T | p.T348S | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87965302A>T | c.1042A>T | p.T348S | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965302A>T | c.1042A>T | p.T348S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN T348S | no effect - predicted |