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Gene | PTEN |
Variant | G251C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN G251C lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251C results in a loss of Pten phosphatase activity and is unable to suppress Akt activation and cell proliferation in culture (PMID: 11156408, PMID: 10866302). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G251C |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957969G>T |
cDNA | c.751G>T |
Protein | p.G251C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87957969G>T | c.751G>T | p.G251C | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957969G>T | c.751G>T | p.G251C | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957969G>T | c.751G>T | p.G251C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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