Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.M195I

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
3 papers
NM_001040436.3
p.M195I
c.585G>T
Surrounding Variants
3 papers
NM_001040436.3
p.M195I
c.585G>C
3 papers
NM_001040436.3
p.M195I
c.585G>A
2 papers
NM_001040436.3
p.G196R
c.586G>A
1 paper
NM_001040436.3
p.L198P
c.593T>C
27 papers
NM_001040436.3
p.G191V
c.572G>T
5 papers
NM_001040436.3
p.G191D
c.572G>A
2 papers
NM_001040436.3
p.S203I
c.608G>T
2 papers
NM_001040436.3
p.F185L
c.555C>G
2 papers
NM_001040436.3
p.F185L
c.555C>A
2 papers
NM_001040436.3
p.F185L
c.553T>C
5 papers
NM_001040436.3
p.L208R
c.623T>G
1 paper
NM_001040436.3
p.K209E
c.625A>G
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."