Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.K281delFs

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.K281delFs
c.842delT
Surrounding Variants
1 paper
NM_001040436.3
p.K281fs
c.841_842fs
1 paper
NM_001040436.3
p.G287D
c.860G>A
1 paper
NM_001040436.3
p.A289V
c.866C>T
1 paper
NM_001040436.3
p.V290V
c.870T>C
1 paper
NM_001040436.3
p.P272L
c.815C>T
2 papers
NM_001040436.3
p.I269T
c.806T>C
1 paper
NM_001040436.3
p.D295N
c.883G>A
1 paper
NM_001040436.3
p.F267S
c.800T>C
1 paper
NM_001040436.3
p.E264_D265del1
c.792_794delTCT
1 paper
NM_001040436.3
p.E264D
c.792A>T
1 paper
NM_001040436.3
p.E264D
c.792A>C
1 paper
NM_001040436.3
p.P299A
c.895C>G
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