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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 |