Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.K578_V582delFs

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
2 papers
NM_005548.3
p.K578_V582delFs
c.1732_1744del13
Surrounding Variants
1 paper
NM_005548.3
p.K579del1
c.1735_1737delCTT
5 papers
NM_005548.3
p.T587I
c.1760C>T
3 papers
NM_001130089.2
p.T623S
c.1867A>T
NM_005548.3
p.T595S
c.1783A>T
3 papers
NM_001130089.2
p.T623S
c.1868C>G
NM_005548.3
p.T595S
c.1784C>G
5 papers
NM_001130089.2
p.L596F
c.1786C>T
NM_005548.3
p.L568F
c.1702C>T
1 paper
NM_005548.3
p.K565_E566Splc
c.1696-2A>C
2 papers
NM_001130089.2
p.N591I
c.1772A>T
1 paper
NM_005548.3
p.D560V
c.1679A>T
4 papers
NM_001130089.2
p.T587M
c.1760C>T
NM_005548.3
p.T559M
c.1676C>T
1 paper
NM_001130089.2
p.F585C
c.1754T>G
1 paper
NM_001130089.2
p.R581Q
c.1742G>A
1 paper
NM_005548.3
p.R553G
c.1657C>G
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