Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.Y77N

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.Y77N
c.229T>A
Surrounding Variants
2 papers
NM_001040436.3
p.Y77C
c.230A>G
2 papers
NM_001040436.3
p.C78*
c.234T>A
1 paper
NM_001040436.3
p.T75I
c.224C>T
1 paper
NM_001040436.3
p.G79V
c.236G>T
1 paper
NM_001040436.3
p.F80S
c.239T>C
1 paper
NM_001040436.3
p.F80Y
c.239T>A
1 paper
NM_001040436.3
p.D81G
c.242A>G
2 papers
NM_001040436.3
p.S71C
c.211A>T
1 paper
NM_001040436.3
p.R67insFs
c.201dupT
1 paper
NM_001040436.3
p.G68S
c.202G>A
1 paper
NM_001040436.3
p.G68fs
c.202_203fs
2 papers
NM_001040436.3
p.S86S
c.258G>A
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