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 | IDH1 |
| Variant | R338T |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | IDH1 R338T does not lie within any known functional domains of the Idh1 protein (UniProt.org). R338T has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
IDH1 mutant IDH1 R338T |
| Transcript | NM_005896.4 |
| gDNA | chr2:g.208239212C>G |
| cDNA | c.1013G>C |
| Protein | p.R338T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |