Varaico: Literature-Extracted Genetic Variants

Gene:WARS2
Variant:p.F251L

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
1 paper
NM_015836.4
p.F251L
c.751T>C
Surrounding Variants
1 paper
NM_015836.4
p.F251L
c.753C>G
1 paper
NM_015836.4
p.F251L
c.753C>A
1 paper
NM_001378227.1
p.K227E
c.679A>G
1 paper
NM_015836.4
p.A254V
c.761C>T
2 papers
NM_015836.4
p.P244L
c.731C>T
1 paper
NM_015836.4
p.E261K
c.781G>A
2 papers
NM_015836.4
p.R239Q
c.716G>A
1 paper
NM_015836.4
p.Y264C
c.791A>G
7 papers
NM_015836.4
p.P266fs
c.796_797fs
5 papers
NM_015836.4
p.P266delFs
c.797delG
3 papers
NM_015836.4
p.A267P
c.799G>C
1 paper
NM_015836.4
p.R269C
c.805C>T
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