Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.P200L

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
12 papers
NM_005548.3
p.P200L
c.599C>T
NM_001130089.2
p.P228L
c.683C>T
Surrounding Variants
2 papers
NM_005548.3
p.Y201H
c.601T>C
NM_001130089.2
p.Y229H
c.685T>C
2 papers
NM_005548.3
p.I198T
c.593T>C
1 paper
NM_005548.3
p.L205L
c.613C>T
2 papers
NM_001130089.2
p.L233V
c.697C>G
1 paper
NM_005548.3
p.L206L
c.616C>T
4 papers
NM_005548.3
p.S207A
c.619T>G
NM_001130089.2
p.S235A
c.703T>G
1 paper
NM_005548.3
p.C209S
c.625T>A
1 paper
NM_005548.3
p.C209S
c.626G>C
2 papers
NM_001130089.2
p.G217D
c.650G>A
NM_005548.3
p.G189D
c.566G>A
1 paper
NM_005548.3
p.I182_V184del3
c.544_551del9
1 paper
NM_005548.3
p.V184L
c.550G>C
1 paper
NM_005548.3
p.I182V
c.544A>G
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