Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.L105H

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
5 papers
NM_005548.3
p.L105H
c.314T>A
NM_001130089.2
p.L133H
c.398T>A
Surrounding Variants
1 paper
NM_005548.3
p.S104P
c.310T>C
1 paper
NM_001130089.2
p.D135N
c.403G>A
1 paper
NM_005548.3
p.D102H
c.304G>C
1 paper
NM_005548.3
p.H100Q
c.300T>G
1 paper
NM_005548.3
p.H100Q
c.300T>A
1 paper
NM_005548.3
p.L105_I109delFs
c.313_326del14
4 papers
NM_001130089.2
p.F127L
c.381C>G
NM_005548.3
p.F99L
c.297C>G
4 papers
NM_005548.3
p.F99L
c.297C>A
NM_001130089.2
p.F127L
c.381C>A
4 papers
NM_001130089.2
p.F127L
c.379T>C
NM_005548.3
p.F99L
c.295T>C
1 paper
NM_001130089.2
p.Q144insFs
c.430_431dupCA
1 paper
NM_005548.3
p.P117S
c.349C>T
1 paper
NM_005548.3
p.T122S
c.364A>T
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