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 | Y285H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH1 Y285H does not lie within any known functional domains of the Idh1 protein (UniProt.org). Y285H has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 Y285H |
Transcript | NM_005896.4 |
gDNA | chr2:g.208240001A>G |
cDNA | c.853T>C |
Protein | p.Y285H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282387.1 | chr2:g.208240001A>G | c.853T>C | p.Y285H | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208240001A>G | c.853T>C | p.Y285H | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208240001A>G | c.853T>C | p.Y285H | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208240001A>G | c.853T>C | p.Y285H | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208240001A>G | c.853T>C | p.Y285H | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208240001A>G | c.853T>C | p.Y285H | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208240001A>G | c.853T>C | p.Y285H | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208240001A>G | c.853T>C | p.Y285H | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208240001A>G | c.853T>C | p.Y285H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH1 Y285H | unknown |