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Gene TET2
Variant H1382Y
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 H1382Y lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1382Y results in an enzymatically dead protein in conjunction with D1384A (PMID: 23222540) and the conserved position in mouse Tet2 is unable to convert 5mC to 5hmC (PMID: 21057493), 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 H1382Y

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Transcript NM_001127208.3
gDNA chr4:g.105269709C>T
cDNA c.4144C>T
Protein p.H1382Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454102.1 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38
NM_001127208 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38
XM_005263082 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105269709C>T c.4144C>T p.H1382Y RefSeq GRCh38/hg38

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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 )
  • 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")

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