Varaico: Literature-Extracted Genetic Variants

Gene:CARS2
Variant:p.P251L

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
6 papers
NM_024537.4
p.P251L
c.752C>T
Surrounding Variants
1 paper
NM_024537.4
p.H254P
c.761A>C
1 paper
NM_024537.4
p.A259T
c.775G>A
1 paper
NM_024537.4
p.A259V
c.776C>T
1 paper
NM_024537.4
p.V240M
c.718G>A
1 paper
NM_024537.4
p.E239E
c.717G>A
1 paper
NM_024537.4
p.P237P
c.711C>T
1 paper
NM_024537.4
p.A219S
c.655G>T
5 papers
NM_024537.4
p.A219T
c.655G>A
1 paper
NM_024537.4
p.A219S
c.655G>T
7 papers
NM_024537.4
p.A219T
c.655G>A
5 papers
NM_024537.4
p.E217del1
c.649_651delCTC
1 paper
NM_024537.4
p.E217G
c.650A>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."