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 | N356H |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PTEN N356H does not lie within any known functional domains of the Pten protein (UniProt.org). N356H demonstrates Pten protein stability and suppression of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN N356H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965326A>C |
cDNA | c.1066A>C |
Protein | p.N356H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87965326A>C | c.1066A>C | p.N356H | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965326A>C | c.1066A>C | p.N356H | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87965326A>C | c.1066A>C | p.N356H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|