Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.D161H

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
Selected Variant
1 paper
NM_001040436.3
p.D161H
c.481G>C
Surrounding Variants
1 paper
NM_001040436.3
p.A153_Q156del4
c.457_467del12
1 paper
NM_001040436.3
p.G166A
c.497G>C
1 paper
NM_001040436.3
p.A150G
c.449C>G
1 paper
NM_001040436.3
p.K179Q
c.535A>C
1 paper
NM_001040436.3
p.K179T
c.536A>C
1 paper
NM_001040436.3
p.A141A
c.423G>C
1 paper
NM_001040436.3
p.H181Q
c.543C>G
1 paper
NM_001040436.3
p.H181Q
c.543C>A
1 paper
NM_001040436.3
p.A139S
c.415G>T
2 papers
NM_001040436.3
p.F185L
c.553T>C
2 papers
NM_001040436.3
p.F185L
c.555C>G
2 papers
NM_001040436.3
p.F185L
c.555C>A
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