Varaico: Literature-Extracted Genetic Variants

Gene:CARS2
Variant:p.T188M

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
7 papers
NM_024537.4
p.T188M
c.563C>T
Surrounding Variants
1 paper
NM_024537.4
p.G191S
c.571G>A
1 paper
NM_024537.4
p.A185V
c.554C>T
1 paper
NM_024537.4
p.G183E
c.548G>A
2 papers
NM_024537.4
p.R182C
c.544C>T
4 papers
NM_024537.4
p.I180F
c.538A>T
1 paper
NM_024537.4
p.Q171R
c.512A>G
1 paper
NM_024537.4
p.K155_V156Splc
c.465+58C>T
1 paper
NM_024537.4
p.M151T
c.452T>C
1 paper
NM_024537.4
p.D146Y
c.436G>T
1 paper
NM_024537.4
p.D146N
c.436G>A
1 paper
NM_024537.4
p.L139L
c.417C>T
1 paper
NM_024537.4
p.A137P
c.409G>C
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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."