Varaico: Literature-Extracted Genetic Variants

Gene:WARS2
Variant:p.R36*

WARS2

125 papers

RefSeq Summary

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-...

Pfam Domains

tRNA-synt_1baa 30–315UCSCtRNA synthetases class I (W and Y)

Gene Aliases

HGNC Name

tryptophanyl tRNA synthetase 2, mitochondrial

HGNC Alias Symbol

mtTrpRS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015836.4
p.R36*
c.106C>T
Surrounding Variants
4 papers
NM_015836.4
p.G45V
c.134G>T
1 paper
NM_015836.4
p.K34_L47delFs
c.102_139del38
5 papers
NM_015836.4
p.G50D
c.149G>A
1 paper
NM_015836.4
p.Y52C
c.155A>G
4 papers
NM_015836.4
p.G54E
c.161G>A
1 paper
NM_015836.4
p.R61K
c.182G>A
1 paper
NM_015836.4
p.E65G
c.194A>G
4 papers
NM_015836.4
p.H77Q
c.231C>G
3 papers
NM_015836.4
p.H77Q
c.231C>A
9 papers
NM_015836.4
p.L100del1
c.298_299delAAG
1 paper
NM_015836.4
p.G103D
c.308G>A
1 paper
NM_015836.4
p.N105I
c.314A>T
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