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 | V343L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN V343L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). V343L has not been identified in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN V343L |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965287G>C |
cDNA | c.1027G>C |
Protein | p.V343L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965287G>C | c.1027G>C | p.V343L | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965287G>C | c.1027G>C | p.V343L | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965287G>C | c.1027G>C | p.V343L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|