Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.L20H

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.L20H
c.59T>A
Surrounding Variants
1 paper
NM_001040436.3
p.N19D
c.55A>G
1 paper
NM_001040436.3
p.T17S
c.50C>G
1 paper
NM_001040436.3
p.W14*
c.41G>A
1 paper
NM_001040436.3
p.L26F
c.78G>C
1 paper
NM_001040436.3
p.G27R
c.79G>C
1 paper
NM_001040436.3
p.R13R
c.39G>C
1 paper
NM_001040436.3
p.G27R
c.79G>A
1 paper
NM_001040436.3
p.L28P
c.83T>C
1 paper
NM_001040436.3
p.G12A
c.35G>C
1 paper
NM_001040436.3
p.G12D
c.35G>A
1 paper
NM_001040436.3
p.G12S
c.34G>A
2 papers
NM_001040436.3
p.S10T
c.28T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."