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Gene | PTEN |
Variant | V249E |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN V249E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). V249E results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN V249E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957964T>A |
cDNA | c.746T>A |
Protein | p.V249E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87957964T>A | c.746T>A | p.V249E | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957964T>A | c.746T>A | p.V249E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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