Varaico: Literature-Extracted Genetic Variants

Gene:YARS2

YARS2

211 papers

RefSeq Summary

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type...

Pfam Domains

tRNA-synt_1baa 70–375UCSCtRNA synthetases class I (W and Y)

Gene Aliases

HGNC Name

tyrosyl-tRNA synthetase 2

HGNC Alias Symbols

FLJ13995; CGI-04; mt-TyrRS

Papers
RefSeq ID
Protein change
DNA change
1–12 of 180 variants
27 papers
NM_001040436.3
p.G191V
c.572G>T
18 papers
NM_001040436.3
p.F52L
c.156C>G
16 papers
NM_001040436.3
p.F52L
c.154T>C
16 papers
NM_001040436.3
p.F52L
c.156C>A
12 papers
NM_001040436.3
p.G46D
c.137G>A
10 papers
NM_001040436.3
p.D311E
c.933C>G
9 papers
NM_001040436.3
p.D311E
c.933C>A
7 papers
NM_001040436.3
p.S33*
c.98C>A
7 papers
NM_001040436.3
p.L392S
c.1175T>C
6 papers
NM_001040436.3
p.L61V
c.181C>G
6 papers
NM_001040436.3
p.R360*
c.1078C>T
6 papers
NM_001040436.3
p.S435G
c.1303A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."