Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.F239L

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_005548.3
p.F239L
c.717T>G
Surrounding Variants
1 paper
NM_005548.3
p.F239L
c.717T>A
1 paper
NM_005548.3
p.F239L
c.715T>C
1 paper
NM_001130089.2
p.K271E
c.811A>G
2 papers
NM_001130089.2
p.F272C
c.815T>G
4 papers
NM_001130089.2
p.R258S
c.774A>T
4 papers
NM_001130089.2
p.R258S
c.774A>C
1 paper
NM_001130089.2
p.R256C
c.766C>T
3 papers
NM_005548.3
p.L258F
c.774A>T
5 papers
NM_001130089.2
p.F291V
c.871T>G
1 paper
NM_001130089.2
p.E293_I294Splc
c.879+1G>C
2 papers
NM_005548.3
p.E265_I266Splc
c.795+1G>A
NM_001130089.2
p.E293_I294Splc
c.879+1G>A
1 paper
NM_005548.3
p.G219A
c.656G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."