Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.S203I

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.S203I
c.608G>T
Surrounding Variants
5 papers
NM_001040436.3
p.L208R
c.623T>G
1 paper
NM_001040436.3
p.L198P
c.593T>C
1 paper
NM_001040436.3
p.K209E
c.625A>G
1 paper
NM_001040436.3
p.L208del1
c.622_623delGAG
2 papers
NM_001040436.3
p.K209R
c.626A>G
2 papers
NM_001040436.3
p.T197_K209del0
c.590_625del36
2 papers
NM_001040436.3
p.G196R
c.586G>A
3 papers
NM_001040436.3
p.M195I
c.585G>T
3 papers
NM_001040436.3
p.M195I
c.585G>C
3 papers
NM_001040436.3
p.M195I
c.585G>A
1 paper
NM_001040436.3
p.E212*
c.634G>T
1 paper
NM_001040436.3
p.M214R
c.641T>G
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