Varaico: Literature-Extracted Genetic Variants

Gene:CARS2
Variant:p.V82I

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.V82I
c.244G>A
Surrounding Variants
1 paper
NM_024537.4
p.V82A
c.245T>C
1 paper
NM_024537.4
p.T81I
c.242C>T
1 paper
NM_024537.4
p.P80S
c.238C>T
1 paper
NM_024537.4
p.S77N
c.230G>A
1 paper
NM_024537.4
p.L88F
c.262C>T
1 paper
NM_024537.4
p.C92Splc
c.275+5G>A
1 paper
NM_024537.4
p.E71G
c.212A>G
1 paper
NM_024537.4
p.E63G
c.188A>G
1 paper
NM_024537.4
p.E63A
c.188A>C
1 paper
NM_024537.4
p.Q53_T59del0
c.159_176del18
1 paper
NM_024537.4
p.Y55*
c.165C>G
1 paper
NM_024537.4
p.Y55*
c.165C>A
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