Varaico: Literature-Extracted Genetic Variants

Gene:KARS1

KARS1

156 papers

RefSeq Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family...

Pfam Domains

tRNA_anti-codonaa 126–206UCSCOB-fold nucleic acid binding domain
tRNA-synt_2aa 222–574UCSCtRNA synthetases class II (D, K and N)

Gene Aliases

HGNC Name

lysyl-tRNA synthetase 1

HGNC Previous Symbol

DFNB89

Papers
RefSeq ID
Protein change
DNA change
1–12 of 216 variants
8 papers
NM_005548.3
p.G377S
c.1129G>A
8 papers
NM_005548.3
p.A526V
c.1577C>T
6 papers
NM_001130089.2
p.P228L
c.683C>T
6 papers
NM_005548.3
p.P200L
c.599C>T
6 papers
NM_005548.3
p.R477H
c.1430G>A
6 papers
NM_005548.3
p.F489C
c.1466T>G
5 papers
NM_001130089.2
p.A57P
c.169G>C
5 papers
NM_001130089.2
p.F291V
c.871T>G
5 papers
NM_001130089.2
p.A526V
c.1577C>T
5 papers
NM_005548.3
p.P505S
c.1513C>T
5 papers
NM_001130089.2
p.L596F
c.1786C>T
5 papers
NM_005548.3
p.T587I
c.1760C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."