Varaico: Literature-Extracted Genetic Variants

Gene:CARS2
Variant:p.M1L

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.M1L
c.1A>C
Surrounding Variants
2 papers
NM_024537.4
p.M1V
c.1A>G
1 paper
NM_024537.4
p.M1R
c.2T>G
1 paper
NM_024537.4
p.M1I
c.3G>A
1 paper
NM_024537.4
p.L2F
c.6G>T
1 paper
NM_024537.4
p.L2F
c.6G>C
1 paper
NM_024537.4
p.R3insFs
c.7dupA
2 papers
NM_024537.4
p.R3S
c.9G>T
2 papers
NM_024537.4
p.R3S
c.9G>C
1 paper
NM_024537.4
p.G7R
c.19G>C
1 paper
NM_024537.4
p.P12H
c.35C>A
1 paper
NM_024537.4
p.P13P
c.39G>C
1 paper
NM_024537.4
p.A17G
c.50C>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."