Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.L216M

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.L216M
c.646T>A
Surrounding Variants
1 paper
NM_001040436.3
p.M214R
c.641T>G
1 paper
NM_001040436.3
p.E212*
c.634G>T
2 papers
NM_001040436.3
p.K209R
c.626A>G
2 papers
NM_001040436.3
p.T197_K209del0
c.590_625del36
1 paper
NM_001040436.3
p.K209E
c.625A>G
1 paper
NM_001040436.3
p.L208del1
c.622_623delGAG
5 papers
NM_001040436.3
p.L208R
c.623T>G
2 papers
NM_001040436.3
p.S203I
c.608G>T
1 paper
NM_001040436.3
p.L232F
c.694C>T
1 paper
NM_001040436.3
p.L198P
c.593T>C
1 paper
NM_001040436.3
p.F233L
c.699C>G
1 paper
NM_001040436.3
p.Q234R
c.701A>G
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