Cloned (Comment) | Organism |
---|---|
transient expression of the p.Lys496stop mutant in neuroblastoma 2A cells reveals diminished and aberrantly aggregated expression | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
K496stop | naturally occuring mutation involved in early-onset epileptic encephalopathy (EOEE), heterozygous mutation leading to a deletion of part of the catalytic domain and the entire anticodon-binding domain, a loss-of-function mutant | Homo sapiens |
Y57H | naturally occuring mutation involved in early-onset epileptic encephalopathy (EOEE), heterozygous mutation, a loss-of-function missense mutation | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P47897 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
Glutaminyl-tRNA synthetase | - |
Homo sapiens |
QARS | - |
Homo sapiens |