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 | L112I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN L112I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L112I has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN L112I |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933093C>A |
cDNA | c.334C>A |
Protein | p.L112I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933093C>A | c.334C>A | p.L112I | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864284_87864286delCTGinsATC | c.334_336delCTGinsATC | p.L112I | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864284_87864286delCTGinsATC | c.334_336delCTGinsATC | p.L112I | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87864284_87864286delCTGinsATC | c.334_336delCTGinsATC | p.L112I | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933093C>A | c.334C>A | p.L112I | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933093C>A | c.334C>A | p.L112I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|