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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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN V343L | unknown |