Varaico: Literature-Extracted Genetic Variants

Gene:NARS1
Variant:p.E305V

NARS1

75 papers

RefSeq Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRN...

Pfam Domains

AsnRS_Naa 21–110UCSCAsparaginal-tRNA synthetase, N-terminal domain
tRNA_anti-codonaa 128–208UCSCOB-fold nucleic acid binding domain
tRNA-synt_2aa 225–543UCSCtRNA synthetases class II (D, K and N)

Gene Aliases

HGNC Name

asparaginyl-tRNA synthetase 1

HGNC Alias Symbol

AsnRS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004539.4
p.E305V
c.914A>T
Surrounding Variants
1 paper
NM_004539.4
p.S320*
c.959C>A
1 paper
NM_004539.4
p.R322L
c.965G>T
1 paper
NM_004539.4
p.E279D
c.837A>T
1 paper
NM_004539.4
p.E279D
c.837A>C
1 paper
NM_004539.4
p.V274M
c.820G>A
1 paper
NM_004539.4
p.T272I
c.815C>T
1 paper
NM_004539.4
p.G264E
c.791G>A
1 paper
NM_004539.4
p.R249Q
c.746G>A
1 paper
NM_004539.4
p.E240K
c.718G>A
3 papers
NM_004539.4
p.M236del1
c.706_707delCAT
1 paper
NM_004539.4
p.N231K
c.693C>G
1 paper
NM_004539.4
p.N231K
c.693C>A
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