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 Q277*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions IDH1 Q277* results in a premature truncation of the Idh1 protein at amino acid 277 of 414 (UniProt.org). Due to the loss of the large domain required for formation of the active site (PMID: 20513808), Q277* is predicted to lead to a loss of Idh1 protein function.
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 inact mut IDH1 Q277*

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.208242015G>A
cDNA c.829C>T
Protein p.Q277*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386 chr2:g.208242015G>A c.829C>T p.Q277* RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208242015G>A c.829C>T p.Q277* RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208242015G>A c.829C>T p.Q277* RefSeq GRCh38/hg38
NM_005896 chr2:g.208242015G>A c.829C>T p.Q277* RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208242015G>A c.829C>T p.Q277* RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208242015G>A c.829C>T p.Q277* RefSeq GRCh38/hg38
NM_001282387 chr2:g.208242015G>A c.829C>T p.Q277* RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208242015G>A c.829C>T p.Q277* RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208242015G>A c.829C>T p.Q277* 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 Protein Effect Treatment Approaches
IDH1 Q277* loss of function - predicted