Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.A57P

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
7 papers
NM_001130089.2
p.A57P
c.169G>C
NM_005548.3
p.A29P
c.85G>C
Surrounding Variants
1 paper
NM_005548.3
p.K31K
c.93G>A
1 paper
NM_005548.3
p.E37K
c.109G>A
1 paper
NM_005548.3
p.Q40*
c.118C>T
1 paper
NM_001130089.2
p.Q75fs
c.223_224fs
1 paper
NM_005548.3
p.Q47P
c.140A>C
1 paper
NM_001130089.2
p.Q75delFs
c.223delG
1 paper
NM_005548.3
p.T52P
c.154A>C
1 paper
NM_005548.3
p.H58D
c.172C>G
1 paper
NM_005548.3
p.D61E
c.183T>A
1 paper
NM_005548.3
p.D61_N62del1
c.182_184delTAT
1 paper
NM_005548.3
p.P73S
c.217C>T
1 paper
NM_005548.3
p.Q75fs
c.223_224fs
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."