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Gene | PTEN |
Variant | C105F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN C105F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105F results in a loss of Pten phosphatase activity and is unable to suppress cell proliferation in culture (PMID: 9823298). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN C105F |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933073G>T |
cDNA | c.314G>T |
Protein | p.C105F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933073G>T | c.314G>T | p.C105F | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933073G>T | c.314G>T | p.C105F | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933073G>T | c.314G>T | p.C105F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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