Varaico: Literature-Extracted Genetic Variants

Gene:CARS2

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
1–12 of 133 variants
7 papers
NM_024537.4
p.T188M
c.563C>T
7 papers
NM_024537.4
p.A219T
c.655G>A
6 papers
NM_024537.4
p.P251L
c.752C>T
5 papers
NM_024537.4
p.E217del1
c.649_651delCTC
5 papers
NM_024537.4
p.A219T
c.655G>A
4 papers
NM_024537.4
p.V52G
c.155T>G
4 papers
NM_024537.4
p.F108C
c.323T>G
4 papers
NM_024537.4
p.I180F
c.538A>T
4 papers
NM_024537.4
p.R346W
c.1036C>T
4 papers
NM_024537.4
p.G476R
c.1426G>C
4 papers
NM_024537.4
p.G476R
c.1426G>A
4 papers
NM_024537.4
p.L483W
c.1448T>G
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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."