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@jax.org

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 and reduced isocitrate-dependent NADPH production (PMID: 21996744, PMID: 20975740), and is predicted to confer a gain of function to Idh1, as indicated by increased production of the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 21996744).
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_005896.3
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_001282387 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_005896.3 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_001282386 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