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Gene TET2
Variant H1904R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 H1904R lies within the substrate binding region of the Tet2 protein (UniProt.org). H1904R is predicted to confer a loss of function to the Tet2 protein as demonstrated by decreased Tet2 enzymatic activity in an in vitro assay (PMID: 24315485).
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 inact mut TET2 H1904R

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Transcript NM_001127208.3
gDNA chr4:g.105276221A>G
cDNA c.5711A>G
Protein p.H1904R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454102.2 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38
XM_005263082 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38
NM_001127208 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105276221A>G c.5711A>G p.H1904R RefSeq GRCh38/hg38

Filtering

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References