TET2 R1179Efs*47
Gene Variant Detail

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Gene TET2
Variant R1179Efs*47
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 R1179Efs*47 indicates a shift in the reading frame starting at amino acid 1179 and terminating 47 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). R1179Efs*47 has not been characterized however, due to the effects of other truncation mutations downstream of R1179 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 inact mut TET2 R1179Efs*47

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Transcript NM_001127208.3
gDNA chr4:g.105242868delA
cDNA c.3535delA
Protein p.R1179Efs*47
Source Database RefSeq
Genome Build 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.