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Gene | IDH2 |
Variant | R140L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH2 R140L lies within the substrate binding region of the Idh2 protein (UniProt.org). R140L has been identified in the scientific literature (PMID: 29448963, PMID: 38980314, PMID: 36064577), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 R140X IDH2 R140L |
Transcript | NM_002168.4 |
gDNA | chr15:g.90088702C>A |
cDNA | c.419G>T |
Protein | p.R140L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168 | chr15:g.90088702C>A | c.419G>T | p.R140L | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90088702C>A | c.419G>T | p.R140L | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90088702C>A | c.419G>T | p.R140L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH2 R140L | unknown | IDH Inhibitor (Pan) IDH2 Inhibitor |