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Gene | PTEN |
Variant | G251S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN G251S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251S has been identified in sequencing studies (PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN G251S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957969G>A |
cDNA | c.751G>A |
Protein | p.G251S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87957969G>A | c.751G>A | p.G251S | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957969G>A | c.751G>A | p.G251S | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957969G>A | c.751G>A | p.G251S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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