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Gene | PTEN |
Variant | R233Q |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PTEN R233Q lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R233Q has not been biochemically characterized, however, induces a similar gene expression signature as wild-type Pten in cell culture (PMID: 27147599), and therefore, is predicted to have no effect on Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN R233Q |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957916G>A |
cDNA | c.698G>A |
Protein | p.R233Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87957916G>A | c.698G>A | p.R233Q | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87957916G>A | c.698G>A | p.R233Q | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957916G>A | c.698G>A | p.R233Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN R233Q | no effect - predicted |