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Gene TET2
Variant P1617H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TET2 P1617H lies within the catalytic domain of the Tet2 protein (PMID: 24315485). P1617H confers a loss of function to the Tet2 protein as demonstrated by the inability of P1617H to inhibit cell proliferation, lack of WT1 binding and regulation of WT1 target genes, and reduced enzymatic conversion of 5mC in culture (PMID: 25601757).
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 inact mut TET2 P1617H

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Transcript NM_001127208.3
gDNA chr4:g.105275360C>A
cDNA c.4850C>A
Protein p.P1617H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127208 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_005263082 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105275360C>A c.4850C>A p.P1617H 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")

Sorting

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