Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | PTEN |
Variant | G251D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN G251D lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251D is associated with decreased Pten protein level and increased phosphorylation of Akt and S6 in a patient tumor sample (PMID: 25003235), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN G251D |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957970G>A |
cDNA | c.752G>A |
Protein | p.G251D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87957970G>A | c.752G>A | p.G251D | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87957970G>A | c.752G>A | p.G251D | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957970G>A | c.752G>A | p.G251D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|