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| Gene | PTEN |
| Variant | G127V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN G127V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127V demonstrates a gene expression profile that correlates with a PTEN loss-of-function variant (PMID: 27147599), but has not been fully biochemically characterized and therefore, its effect on Pten protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN G127V |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933139G>T |
| cDNA | c.380G>T |
| Protein | p.G127V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314 | chr10:g.87933139G>T | c.380G>T | p.G127V | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933139G>T | c.380G>T | p.G127V | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87933139G>T | c.380G>T | p.G127V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PTEN G127V | unknown |