Varaico: Literature-Extracted Genetic Variants

Gene:CARS2
Variant:p.D338N

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.D338N
c.1012G>A
Surrounding Variants
1 paper
NM_024537.4
p.V339L
c.1015G>C
1 paper
NM_024537.4
p.R341W
c.1021C>T
2 papers
NM_024537.4
p.R341Q
c.1022G>A
4 papers
NM_024537.4
p.R346W
c.1036C>T
1 paper
NM_024537.4
p.R346Q
c.1037G>A
1 paper
NM_024537.4
p.D357H
c.1069G>C
1 paper
NM_024537.4
p.A359V
c.1076C>T
1 paper
NM_024537.4
p.L370L
c.1108C>T
1 paper
NM_024537.4
p.A377S
c.1129G>T
1 paper
NM_024537.4
p.R378C
c.1132C>T
1 paper
NM_024537.4
p.R398Splc
c.1194-5C>A
1 paper
NM_024537.4
p.V406M
c.1216G>A
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