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Gene | PTEN |
Variant | I101F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN I101F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I101F demonstrates protein stability similar to wild-type Pten, however, results in reduced ability to rescue spheroid formation in cell culture (PMID: 32366478) and reduced phosphatase activity in a yeast assay (PMID: 29706350). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN I101F |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933060A>T |
cDNA | c.301A>T |
Protein | p.I101F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933060A>T | c.301A>T | p.I101F | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933060A>T | c.301A>T | p.I101F | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933060A>T | c.301A>T | p.I101F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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