Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.F52L

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
16 papers
NM_001040436.3
p.F52L
c.156C>A
Surrounding Variants
18 papers
NM_001040436.3
p.F52L
c.156C>G
16 papers
NM_001040436.3
p.F52L
c.154T>C
2 papers
NM_001040436.3
p.F51_F52delFs
c.153_156del4
2 papers
NM_001040436.3
p.F51S
c.152T>C
2 papers
NM_001040436.3
p.D50D
c.150C>T
1 paper
NM_001040436.3
p.T55A
c.163A>G
1 paper
NM_001040436.3
p.F48L
c.142T>C
12 papers
NM_001040436.3
p.G46D
c.137G>A
1 paper
NM_001040436.3
p.P53_I59del0
c.159_176del18
1 paper
NM_001040436.3
p.R45Q
c.134G>A
1 paper
NM_001040436.3
p.E60A
c.179A>C
6 papers
NM_001040436.3
p.L61V
c.181C>G
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