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Gene TET2
Variant R550*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 R550* results in a premature truncation of the Tet2 protein at amino acid 550 of 2002 (UniProt.org). R550* has not been characterized however, due to the effects of other truncation mutations downstream of R550 (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 R550*

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Transcript NM_001127208.3
gDNA chr4:g.105235590C>T
cDNA c.1648C>T
Protein p.R550*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005263082.4 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
XM_047415839.1 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
XM_047415840.1 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
XM_047415841.1 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
XM_006714242.4 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
XM_017008319.2 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
XM_047415843.1 chr4:g.105235590C>T c.1648C>T p.R550* RefSeq GRCh38/hg38
XM_047415842.1 chr4:g.105235590C>T c.1648C>T p.R550* 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
TET2 R550* loss of function - predicted