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Gene | PTEN |
Variant | A151P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN A151P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A151P demonstrates reduced Pten protein stability and fails to suppress Akt phosphorylation in cell culture, and leads to impaired developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN A151P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933210G>C |
cDNA | c.451G>C |
Protein | p.A151P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933210G>C | c.451G>C | p.A151P | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933210G>C | c.451G>C | p.A151P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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