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 | IDH2 |
Variant | L449V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH2 L449V does not lie within any known functional domains of the Idh2 protein (UniProt.org). L449V does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 L449V |
Transcript | NM_002168.4 |
gDNA | chr15:g.90084280G>C |
cDNA | c.1345C>G |
Protein | p.L449V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.4 | chr15:g.90084280G>C | c.1345C>G | p.L449V | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90084280G>C | c.1345C>G | p.L449V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|