Varaico: Literature-Extracted Genetic Variants

Gene:CARS2
Variant:p.E217G

CARS2

118 papers

RefSeq Summary

This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. Th...

Pfam Domains

tRNA-synt_1eaa 65–365UCSCtRNA synthetases class I (C) catalytic domain

Gene Aliases

HGNC Name

cysteinyl-tRNA synthetase 2, mitochondrial

HGNC Alias Symbol

FLJ12118

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024537.4
p.E217G
c.650A>G
Surrounding Variants
5 papers
NM_024537.4
p.E217del1
c.649_651delCTC
3 papers
NM_024537.4
p.G216E
c.647G>A
1 paper
NM_024537.4
p.A219S
c.655G>T
7 papers
NM_024537.4
p.A219T
c.655G>A
2 papers
NM_024537.4
p.V210M
c.628G>A
1 paper
NM_024537.4
p.D202N
c.604G>A
1 paper
NM_024537.4
p.D196N
c.586G>A
2 papers
NM_024537.4
p.N192D
c.574A>G
1 paper
NM_024537.4
p.G191V
c.572G>T
1 paper
NM_024537.4
p.G191S
c.571G>A
1 paper
NM_024537.4
p.G191S
c.571G>A
7 papers
NM_024537.4
p.T188M
c.563C>T
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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."