Varaico: Literature-Extracted Genetic Variants

Gene:YARS1
Variant:p.Y52*

YARS1

193 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 31–322UCSCtRNA synthetases class I (W and Y)
tRNA_bindaa 370–466UCSCPutative tRNA binding domain

Gene Aliases

HGNC Name

tyrosyl-tRNA synthetase 1

HGNC Alias Symbols

YTS; YRS; tyrRS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003680.4
p.Y52*
c.156C>G
Surrounding Variants
1 paper
NM_003680.4
p.F53I
c.157T>A
1 paper
NM_003680.4
p.F53Y
c.158T>A
2 papers
NM_003680.4
p.A51_Y52delFs
c.153_156del4
1 paper
NM_003680.4
p.H49Y
c.145C>T
3 papers
NM_003680.4
p.G46D
c.137G>A
4 papers
NM_003680.4
p.I59T
c.176T>C
1 paper
NM_003680.4
p.D61N
c.181G>A
1 paper
NM_003680.4
p.L63*
c.188T>A
1 paper
NM_003680.4
p.G41A
c.122G>C
32 papers
NM_003680.4
p.G41R
c.121G>C
32 papers
NM_003680.4
p.G41R
c.121G>A
1 paper
NM_003680.4
p.K64M
c.191A>T
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