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 G289fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions IDH1 G289fs results in a change in the amino acid sequence of the Idh1 protein beginning at aa 289 of 414, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the large domain required for formation of the active site (PMID: 20513808), S289fs is predicted to lead to a loss of Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 inact mut IDH1 G289fs

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.(208239989_208239990)
cDNA c.(865_864)
Protein p.G289fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386.1 chr2:g.(208239989_208239990) c.(865_864) p.G289fs RefSeq GRCh38/hg38
NM_005896 chr2:g.(208239989_208239990) c.(865_864) p.G289fs RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.(208239989_208239990) c.(865_864) p.G289fs RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.(208239989_208239990) c.(865_864) p.G289fs RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.(208239989_208239990) c.(865_864) p.G289fs RefSeq GRCh38/hg38
NM_001282386 chr2:g.(208239989_208239990) c.(865_864) p.G289fs RefSeq GRCh38/hg38
NM_001282387 chr2:g.(208239989_208239990) c.(865_864) p.G289fs RefSeq GRCh38/hg38
NM_005896.3 chr2:g.(208239989_208239990) c.(865_864) p.G289fs RefSeq GRCh38/hg38
NM_005896.4 chr2:g.(208239989_208239990) c.(865_864) p.G289fs 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