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 G123R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 G123R lies within the active site of the Idh1 protein (PMID: 20972461). The functional effect of G123R is conflicting, as it results in decreased catalytic activity in an in vitro assay (PMID: 20171178), but also demonstrates catalytic activity similar to wild-type Idh1 (PMID: 21996744), and therefore, its effect on Idh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 G123R

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.208248416C>T
cDNA c.367G>A
Protein p.G123R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386.1 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_005896 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248416C>T c.367G>A p.G123R RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248416C>T c.367G>A p.G123R 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