Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.A2V

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.A2V
c.5C>T
Surrounding Variants
2 papers
NM_001040436.3
p.M1I
c.3G>A
1 paper
NM_001040436.3
p.A3T
c.7G>A
1 paper
NM_001040436.3
p.P4S
c.10C>T
1 paper
NM_001040436.3
p.I5N
c.14T>A
2 papers
NM_001040436.3
p.S10T
c.28T>A
1 paper
NM_001040436.3
p.G12S
c.34G>A
1 paper
NM_001040436.3
p.G12A
c.35G>C
1 paper
NM_001040436.3
p.G12D
c.35G>A
1 paper
NM_001040436.3
p.R13R
c.39G>C
1 paper
NM_001040436.3
p.W14*
c.41G>A
1 paper
NM_001040436.3
p.T17S
c.50C>G
1 paper
NM_001040436.3
p.N19D
c.55A>G
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