Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.D121fs

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.D121fs
c.361_362fs
Surrounding Variants
1 paper
NM_001040436.3
p.D121H
c.361G>C
4 papers
NM_001040436.3
p.P122R
c.365C>G
1 paper
NM_001040436.3
p.D121fs
c.361_362fs
1 paper
NM_001040436.3
p.G120G
c.360A>G
1 paper
NM_001040436.3
p.G120insFs
c.359dupG
1 paper
NM_001040436.3
p.R118H
c.353G>A
1 paper
NM_001040436.3
p.R118G
c.352C>G
1 paper
NM_001040436.3
p.K127R
c.380A>G
1 paper
NM_001040436.3
p.G114D
c.341G>A
1 paper
NM_001040436.3
p.V112L
c.334G>C
1 paper
NM_001040436.3
p.V112M
c.334G>A
1 paper
NM_001040436.3
p.T134I
c.401C>T
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