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 H133Q
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH1 H133Q does not lie within any known functional domains of the Idh1 protein (UniProt.org). H133Q demonstrates isocitrate-dependent NADPH production comparable to wild-type Idh1 with a minor decrease in catalytic efficiency, and does not increase 2HG production at physiologically relevant conditions in in vitro assays (PMID: 21996744, PMID: 28330869), and therefore, is predicted to have no effect on Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 H133Q

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.208248384A>T
cDNA c.399T>A
Protein p.H133Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386 chr2:g.208248384A>T c.399T>A p.H133Q RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248384A>T c.399T>A p.H133Q RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248384A>T c.399T>A p.H133Q RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248384A>T c.399T>A p.H133Q RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248384A>T c.399T>A p.H133Q RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248384A>T c.399T>A p.H133Q RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248384A>T c.399T>A p.H133Q RefSeq GRCh38/hg38
NM_005896 chr2:g.208248384A>T c.399T>A p.H133Q RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248384A>T c.399T>A p.H133Q 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