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Gene | PTEN |
Variant | L112R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN L112R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L112R results in loss of Pten phosphatase activity in an in vitro assay and a yeast assay (PMID: 29706350, PMID: 10866302). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L112R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933094T>G |
cDNA | c.335T>G |
Protein | p.L112R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933094T>G | c.335T>G | p.L112R | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933094T>G | c.335T>G | p.L112R | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933094T>G | c.335T>G | p.L112R | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864285T>G | c.335T>G | p.L112R | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87864285T>G | c.335T>G | p.L112R | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864285T>G | c.335T>G | p.L112R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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