Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.A498V

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.A498V
c.1493C>T
NM_001130089.2
p.A526V
c.1577C>T
Surrounding Variants
2 papers
NM_001130089.2
p.C524_N525insTT
c.1570_1574ins6
1 paper
NM_001130089.2
p.C524R
c.1570T>C
1 paper
NM_005548.3
p.I495M
c.1485A>G
9 papers
NM_005548.3
p.P505S
c.1513C>T
NM_001130089.2
p.P533S
c.1597C>T
1 paper
NM_001130089.2
p.P533T
c.1597C>A
4 papers
NM_001130089.2
p.P533R
c.1598C>G
NM_005548.3
p.P505R
c.1514C>G
1 paper
NM_005548.3
p.M506T
c.1517T>C
1 paper
NM_005548.3
p.R507W
c.1519C>T
6 papers
NM_005548.3
p.F489C
c.1466T>G
1 paper
NM_005548.3
p.E514_Q515insTT
c.1540_1544ins6
3 papers
NM_005548.3
p.E480delFs
c.1438delC
9 papers
NM_005548.3
p.R477H
c.1430G>A
NM_001130089.2
p.R505H
c.1514G>A
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