Varaico: Literature-Extracted Genetic Variants

Gene:CARS2
Variant:p.M114L

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.M114L
c.340A>C
Surrounding Variants
1 paper
NM_024537.4
p.V115E
c.344T>A
1 paper
NM_024537.4
p.I112L
c.334A>T
1 paper
NM_024537.4
p.G117A
c.350G>C
4 papers
NM_024537.4
p.F108C
c.323T>G
1 paper
NM_024537.4
p.D120N
c.358G>A
1 paper
NM_024537.4
p.V121L
c.361G>C
1 paper
NM_024537.4
p.R101*
c.301C>T
1 paper
NM_024537.4
p.R128I
c.383G>T
1 paper
NM_024537.4
p.V95I
c.283G>A
1 paper
NM_024537.4
p.C92Splc
c.275+5G>A
1 paper
NM_024537.4
p.L88F
c.262C>T
1 paper
NM_024537.4
p.V82A
c.245T>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."