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 | W92R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH1 W92R does not lie within any known functional domains of the Idh1 protein (UniProt.org). W92R has been identified in sequencing studies (PMID: 30352278, PMID: 26645239), 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 W92R |
Transcript | NM_005896.4 |
gDNA | chr2:g.208248509A>T |
cDNA | c.274T>A |
Protein | p.W92R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005896.4 | chr2:g.208248509A>T | c.274T>A | p.W92R | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208248509A>T | c.274T>A | p.W92R | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248509A>T | c.274T>A | p.W92R | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208248509A>T | c.274T>A | p.W92R | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248509A>T | c.274T>A | p.W92R | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208248509A>T | c.274T>A | p.W92R | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248509A>T | c.274T>A | p.W92R | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208248509A>T | c.274T>A | p.W92R | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248509A>T | c.274T>A | p.W92R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|