Varaico: Literature-Extracted Genetic Variants

Gene:WARS1
Variant:p.H257R

WARS1

71 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

WHEP-TRSaa 12–64UCSCWHEP-TRS domain
WHEP-TRSaa 12–64UCSCWHEP-TRS domain
tRNA-synt_1baa 151–443UCSCtRNA synthetases class I (W and Y)

Gene Aliases

HGNC Name

tryptophanyl-tRNA synthetase 1

HGNC Previous Symbol

IFI53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_004184.4
p.H257R
c.770A>G
Surrounding Variants
1 paper
NM_004184.4
p.H257Q
c.771T>G
1 paper
NM_004184.4
p.H257Q
c.771T>A
2 papers
NM_004184.4
p.V251M
c.751G>A
1 paper
NM_004184.4
p.R300delFs
c.898_899delCT
5 papers
NM_004184.4
p.D314G
c.941A>G
1 paper
NM_004184.4
p.A324T
c.970G>A
1 paper
NM_004184.4
p.R326S
c.978G>C
3 papers
NM_004184.4
p.A333T
c.997G>A
1 paper
NM_004184.4
p.A346T
c.1036G>A
3 papers
NM_004184.4
p.N356I
c.1067A>T
1 paper
NM_213645.2
p.A174A
c.522T>C
1 paper
NM_004184.4
p.Y214D
c.640T>G
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