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Gene TET2
Variant S1758*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 S1758* results in a premature truncation of the Tet2 protein at amino acid 1758 of 2002 (UniProt.org). S1758* 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 S1758*

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Transcript NM_001127208.3
gDNA chr4:g.105275783C>A
cDNA c.5273C>A
Protein p.S1758*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454103.2 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38
XM_005263082 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38
NM_001127208 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105275783C>A c.5273C>A p.S1758* RefSeq GRCh38/hg38

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