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Gene | PTEN |
Variant | C105Y |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN C105Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105Y results in a loss of Lkb1 binding in the context of an N-terminal truncated Pten protein in a yeast two-hybrid assay (PMID: 15987703), and reduced lipid and protein phosphatase activities of Pten in an in vitro assays (PMID: 34561453). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN C105Y |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933073G>A |
cDNA | c.314G>A |
Protein | p.C105Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933073G>A | c.314G>A | p.C105Y | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933073G>A | c.314G>A | p.C105Y | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933073G>A | c.314G>A | p.C105Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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