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Gene | PTEN |
Variant | Y155H |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN Y155H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y155H demonstrates reduced Pten protein stability and fails to suppress Akt phosphorylation in cell culture (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Y155H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933222T>C |
cDNA | c.463T>C |
Protein | p.Y155H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933222T>C | c.463T>C | p.Y155H | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933222T>C | c.463T>C | p.Y155H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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