Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TET2 |
Variant | C1642Wfs*49 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 C1642Wfs*49 indicates a shift in the reading frame starting at amino acid 1642 and terminating 49 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). C1642Wfs*49 has not been characterized however, due to the effects of other truncation mutations downstream of C1642 (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 C1642Wfs*49 |
Transcript | NM_001127208.3 |
gDNA | chr4:g.(105275434_105275583) |
cDNA | c.(4924_5073) |
Protein | p.C1642Wfs*49 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024454103.1 | chr4:g.(105275434_105275583) | c.(4924_5073) | p.C1642Wfs*49 | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.(105275434_105275583) | c.(4924_5073) | p.C1642Wfs*49 | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.(105275434_105275583) | c.(4924_5073) | p.C1642Wfs*49 | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.(105275434_105275583) | c.(4924_5073) | p.C1642Wfs*49 | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.(105275434_105275583) | c.(4924_5073) | p.C1642Wfs*49 | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.(105275434_105275583) | c.(4924_5073) | p.C1642Wfs*49 | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.(105275434_105275583) | c.(4924_5073) | p.C1642Wfs*49 | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.(105275434_105275583) | c.(4924_5073) | p.C1642Wfs*49 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|