Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.G105_H106insFs

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.G105_H106insFs
c.315_316insC
Surrounding Variants
1 paper
NM_001040436.3
p.G105delFs
c.314delC
2 papers
NM_001040436.3
p.G105fs
c.313_314fs
1 paper
NM_001040436.3
p.A104insFs
c.310_311insTC
1 paper
NM_001040436.3
p.A104insFs
c.310_311insCC
1 paper
NM_001040436.3
p.R103_A104insFs
c.309_310insC
1 paper
NM_001040436.3
p.R103_A104insFs
c.309_310insCC
1 paper
NM_001040436.3
p.L101L
c.301T>C
1 paper
NM_001040436.3
p.V112L
c.334G>C
1 paper
NM_001040436.3
p.V112M
c.334G>A
1 paper
NM_001040436.3
p.H100L
c.299A>T
1 paper
NM_001040436.3
p.G114D
c.341G>A
1 paper
NM_001040436.3
p.L98L
c.292C>T
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