TET2 R506*
Gene Variant Detail

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Gene TET2
Variant R506*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 R506* results in a premature truncation of the Tet2 protein at amino acid 506 of 2002 (UniProt.org). R506* results in a loss of 5-hydroxymethylcytosine (5hmc) formation in cultured cells (PMID: 24994606), and therefore, is predicted to lead to a loss of Tet2 protein function.
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 inact mut TET2 R506*

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Transcript NM_001127208.3
gDNA chr4:g.105235458A>T
cDNA c.1516A>T
Protein p.R506*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208.3 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_047415843.1 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_006714242 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_047415839.1 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_047415842.1 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_005263082 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_006714242.4 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
NM_001127208 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_047415840.1 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
NM_017628 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_006714242.3 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_017008319.1 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_047415841.1 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_017008319.2 chr4:g.105235458A>T c.1516A>T p.R506* RefSeq GRCh38/hg38
XM_017008319 chr4:g.105235458A>T c.1516A>T p.R506* 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries