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 V294M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 V294M does not lie within any known functional domains of the Idh1 protein (UniProt.org). The functional effect of V294M is conflicting, as it results in increased cell growth and migration (PMID: 27469031), however, demonstrates enzyme activity similar to wild-type Idh1 in culture (PMID: 21996744), and therefore, its effect on Idh1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 V294M

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.208239974C>T
cDNA c.880G>A
Protein p.V294M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386 chr2:g.208239974C>T c.880G>A p.V294M RefSeq GRCh38/hg38
NM_001282387 chr2:g.208239974C>T c.880G>A p.V294M RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208239974C>T c.880G>A p.V294M RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208239974C>T c.880G>A p.V294M RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208239974C>T c.880G>A p.V294M RefSeq GRCh38/hg38
NM_005896 chr2:g.208239974C>T c.880G>A p.V294M 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