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Gene | IDH2 |
Variant | E208* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | IDH2 E208* results in a premature truncation of the Idh2 protein at amino acid 208 of 452 (UniProt.org). Due to the loss of sites critical for catalysis (UniProt.org), E208* is predicted to lead to a loss of Idh2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 inact mut IDH2 E208* |
Transcript | NM_002168.4 |
gDNA | chr15:g.90088415C>A |
cDNA | c.622G>T |
Protein | p.E208* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90088415C>A | c.622G>T | p.E208* | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90088415C>A | c.622G>T | p.E208* | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90088415C>A | c.622G>T | p.E208* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH2 E208* | loss of function - predicted |