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Gene | PTEN |
Variant | M134del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN M134del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 134 (UniProt.org). M134del results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN M134del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933161_87933163delGAT |
cDNA | c.402_404delGAT |
Protein | p.M134delM |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718.2 | chr10:g.87961083_87961085delGAC | c.400_402delGAC | p.D134delD | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933161_87933163delGAT | c.402_404delGAT | p.M134delM | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864350_87864352delGAG | c.400_402delGAG | p.E134delE | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933161_87933163delGAT | c.402_404delGAT | p.M134del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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