Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.R351W

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
2 papers
NM_001130089.2
p.R351W
c.1051C>T
Surrounding Variants
2 papers
NM_001130089.2
p.R348H
c.1043G>A
1 paper
NM_001130089.2
p.R348C
c.1042C>T
1 paper
NM_005548.3
p.I327V
c.979A>G
1 paper
NM_005548.3
p.D313_G326del14
c.937_977del42
6 papers
NM_001130089.2
p.I346T
c.1037T>C
NM_005548.3
p.I318T
c.953T>C
1 paper
NM_005548.3
p.D328H
c.982G>C
2 papers
NM_001130089.2
p.T358M
c.1073C>T
1 paper
NM_005548.3
p.P333L
c.998C>T
1 paper
NM_005548.3
p.T337S
c.1009A>T
1 paper
NM_005548.3
p.T337S
c.1010C>G
1 paper
NM_005548.3
p.A343V
c.1028C>T
1 paper
NM_001130089.2
p.Y375N
c.1123T>A
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