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Gene | IDH2 |
Variant | R172T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH2 R172T lies within the active site of the Idh2 protein (PMID: 19228619). R172T is associated with increased levels of 2-hydroxyglutarate (2-HG) in patient samples (PMID: 27913435, PMID: 27956631), 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 R172X IDH2 R172T |
Transcript | NM_002168.4 |
gDNA | chr15:g.90088606C>G |
cDNA | c.515G>C |
Protein | p.R172T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.4 | chr15:g.90088606C>G | c.515G>C | p.R172T | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90088606C>G | c.515G>C | p.R172T | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90088606C>G | c.515G>C | p.R172T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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