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Gene | PTEN |
Variant | V275* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN V275* results in a premature truncation of the Pten protein at amino acid 275 of 403 (UniProt.org). V275* 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 V275* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960915_87960916delGTinsTA |
cDNA | c.823_824delGTinsTA |
Protein | p.V275* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87960915_87960916delGTinsTA | c.823_824delGTinsTA | p.V275* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960915_87960916delGTinsTA | c.823_824delGTinsTA | p.V275* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87960915_87960916delGTinsTA | c.823_824delGTinsTA | p.V275* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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