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Gene | PTEN |
Variant | G127N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN G127N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127N confers a loss of Pten protein function as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076, PMID: 29706350). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G127N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933138_87933140delGGAinsAAC |
cDNA | c.379_381delGGAinsAAC |
Protein | p.G127N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933138_87933140delGGAinsAAC | c.379_381delGGAinsAAC | p.G127N | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933138_87933140delGGAinsAAC | c.379_381delGGAinsAAC | p.G127N | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933138_87933140delGGAinsAAC | c.379_381delGGAinsAAC | p.G127N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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