Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.R438W

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
6 papers
NM_005548.3
p.R438W
c.1312C>T
NM_001130089.2
p.R466W
c.1396C>T
Surrounding Variants
1 paper
NM_005548.3
p.A441_R442insTT
c.1321_1325ins6
1 paper
NM_001130089.2
p.L471P
c.1412T>C
1 paper
NM_001130089.2
p.V456insFs
c.1366_1367insC
1 paper
NM_005548.3
p.V428ins1
c.1282_1283insAGA
2 papers
NM_005548.3
p.C427_V428ins1
c.1281_1282insAGA
1 paper
NM_005548.3
p.D424H
c.1270G>C
1 paper
NM_005548.3
p.L423del1
c.1267_1269delAAG
1 paper
NM_005548.3
p.R420H
c.1259G>A
1 paper
NM_005548.3
p.R420C
c.1258C>T
1 paper
NM_001130089.2
p.E427_L428ins1
c.1281_1282insAGA
2 papers
NM_005548.3
p.R393Q
c.1178G>A
1 paper
NM_001130089.2
p.R420W
c.1258C>T
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