Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.Q75fs

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.Q75fs
c.223_224fs
Surrounding Variants
1 paper
NM_005548.3
p.Q75delFs
c.223delG
1 paper
NM_001130089.2
p.R108C
c.322C>T
1 paper
NM_001130089.2
p.Y105_S109delFs
c.313_326del14
1 paper
NM_005548.3
p.I84V
c.250A>G
1 paper
NM_005548.3
p.L87L
c.261G>C
1 paper
NM_001130089.2
p.K116E
c.346A>G
4 papers
NM_001130089.2
p.F127L
c.379T>C
NM_005548.3
p.F99L
c.295T>C
4 papers
NM_001130089.2
p.F127L
c.381C>G
NM_005548.3
p.F99L
c.297C>G
4 papers
NM_005548.3
p.F99L
c.297C>A
NM_001130089.2
p.F127L
c.381C>A
1 paper
NM_005548.3
p.H100Q
c.300T>G
1 paper
NM_005548.3
p.H100Q
c.300T>A
1 paper
NM_005548.3
p.D102H
c.304G>C
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