Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.R420W

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
Selected Variant
1 paper
NM_001130089.2
p.R420W
c.1258C>T
Surrounding Variants
2 papers
NM_005548.3
p.R393Q
c.1178G>A
5 papers
NM_001130089.2
p.P418R
c.1253C>G
NM_005548.3
p.P390R
c.1169C>G
1 paper
NM_001130089.2
p.E427_L428ins1
c.1281_1282insAGA
1 paper
NM_005548.3
p.A382T
c.1144G>A
8 papers
NM_005548.3
p.G377S
c.1129G>A
1 paper
NM_001130089.2
p.H402Y
c.1204C>T
1 paper
NM_005548.3
p.Y373C
c.1118A>G
1 paper
NM_005548.3
p.I365I
c.1095T>C
1 paper
NM_001130089.2
p.S387L
c.1160C>T
1 paper
NM_005548.3
p.T354M
c.1061C>T
5 papers
NM_001130089.2
p.L378H
c.1133T>A
NM_005548.3
p.L350H
c.1049T>A
6 papers
NM_001130089.2
p.D377N
c.1129G>A
NM_005548.3
p.D349N
c.1045G>A
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