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 | K81N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH1 K81N does not lie within any known functional domains of the Idh1 protein (UniProt.org). K81N has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 K81N |
Transcript | NM_005896.4 |
gDNA | chr2:g.208248540C>G |
cDNA | c.243G>C |
Protein | p.K81N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282386.1 | chr2:g.208248540C>G | c.243G>C | p.K81N | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248540C>G | c.243G>C | p.K81N | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248540C>G | c.243G>C | p.K81N | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208248540C>G | c.243G>C | p.K81N | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208248540C>G | c.243G>C | p.K81N | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208248540C>G | c.243G>C | p.K81N | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248540C>G | c.243G>C | p.K81N | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208248540C>G | c.243G>C | p.K81N | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208248540C>G | c.243G>C | p.K81N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|