Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.I251V

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
3 papers
NM_001040436.3
p.I251V
c.751A>G
Surrounding Variants
1 paper
NM_001040436.3
p.G254R
c.760G>C
1 paper
NM_001040436.3
p.G254R
c.760G>A
5 papers
NM_001040436.3
p.G244A
c.731G>C
2 papers
NM_001040436.3
p.G237R
c.709G>A
1 paper
NM_001040436.3
p.Y236F
c.707A>T
3 papers
NM_001040436.3
p.Y236C
c.707A>G
1 paper
NM_001040436.3
p.Q234H
c.702G>T
1 paper
NM_001040436.3
p.Q234H
c.702G>C
1 paper
NM_001040436.3
p.Q234R
c.701A>G
1 paper
NM_001040436.3
p.F233L
c.699C>G
1 paper
NM_001040436.3
p.L232F
c.694C>T
1 paper
NM_001040436.3
p.L216M
c.646T>A
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