Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.A35D

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
2 papers
NM_001040436.3
p.A35D
c.104C>A
Surrounding Variants
1 paper
NM_001040436.3
p.G34A
c.101G>C
1 paper
NM_001040436.3
p.Q36Q
c.108G>A
7 papers
NM_001040436.3
p.S33*
c.98C>A
2 papers
NM_001040436.3
p.L38I
c.112T>A
1 paper
NM_001040436.3
p.A31G
c.92C>G
1 paper
NM_001040436.3
p.A31D
c.92C>A
1 paper
NM_001040436.3
p.L28P
c.83T>C
1 paper
NM_001040436.3
p.G27R
c.79G>C
1 paper
NM_001040436.3
p.G27R
c.79G>A
1 paper
NM_001040436.3
p.L26F
c.78G>C
1 paper
NM_001040436.3
p.R45Q
c.134G>A
12 papers
NM_001040436.3
p.G46D
c.137G>A
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