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Gene | PTEN |
Variant | C124G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN C124G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124G results in a loss of Pten phosphatase activity and is unable to suppress cell proliferation in culture (PMID: 9823298). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN C124G |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933129T>G |
cDNA | c.370T>G |
Protein | p.C124G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933129T>G | c.370T>G | p.C124G | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933129T>G | c.370T>G | p.C124G | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933129T>G | c.370T>G | p.C124G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN C124G | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |