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 | G1814* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | TET2 G1814* results in a premature truncation of the Tet2 protein at amino acid 1814 of 2002 (UniProt.org). G1814* has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 G1814* |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105275950G>T |
cDNA | c.5440G>T |
Protein | p.G1814* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024454103.1 | chr4:g.105275950G>T | c.5440G>T | p.G1814* | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105275950G>T | c.5440G>T | p.G1814* | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105275950G>T | c.5440G>T | p.G1814* | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105275950G>T | c.5440G>T | p.G1814* | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105275950G>T | c.5440G>T | p.G1814* | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105275950G>T | c.5440G>T | p.G1814* | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105275950G>T | c.5440G>T | p.G1814* | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105275950G>T | c.5440G>T | p.G1814* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|