Gene Variant Detail

Contact

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 R100A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH1 R100A lies within the substrate binding region of the Idh1 protein (UniProt.org). R100A results in decreased binding and catalysis of isocitrate by Idh1, reduced isocitrate-dependent NADPH production (PMID: 21996744, PMID: 20975740), and increased production of the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 21996744), and therefore, is predicted to lead to a gain of Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R100A

IDH1 mutant IDH1 R100X IDH1 R100A

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_005896.4
gDNA chr2:g.208248484_208248485delCGinsGC
cDNA c.298_299delCGinsGC
Protein p.R100A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_005896 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248484_208248485delCGinsGC c.298_299delCGinsGC p.R100A RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References