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 | Y183C |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH1 Y183C does not lie within any known functional domains of the Idh1 protein (UniProt.org). Y183C does not result in production of the oncometabolite 2HG in cell culture (PMID: 23063752), and therefore, is predicted to have no effect on Idh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 Y183C |
Transcript | NM_005896.4 |
gDNA | chr2:g.208243577T>C |
cDNA | c.548A>G |
Protein | p.Y183C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005896.3 | chr2:g.208243577T>C | c.548A>G | p.Y183C | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208243577T>C | c.548A>G | p.Y183C | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208243577T>C | c.548A>G | p.Y183C | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208243577T>C | c.548A>G | p.Y183C | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208243577T>C | c.548A>G | p.Y183C | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208243577T>C | c.548A>G | p.Y183C | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208243577T>C | c.548A>G | p.Y183C | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208243577T>C | c.548A>G | p.Y183C | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208243577T>C | c.548A>G | p.Y183C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|