Varaico: Literature-Extracted Genetic Variants

Gene:CARS2
Variant:p.V497A

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.V497A
c.1490T>C
Surrounding Variants
1 paper
NM_024537.4
p.V497I
c.1489G>A
1 paper
NM_024537.4
p.F493S
c.1478T>C
1 paper
NM_024537.4
p.E506K
c.1516G>A
1 paper
NM_024537.4
p.V487A
c.1460T>C
1 paper
NM_024537.4
p.A511T
c.1531G>A
4 papers
NM_024537.4
p.L483W
c.1448T>G
1 paper
NM_024537.4
p.G476*
c.1426G>T
4 papers
NM_024537.4
p.G476R
c.1426G>C
4 papers
NM_024537.4
p.G476R
c.1426G>A
1 paper
NM_024537.4
p.R519G
c.1555A>G
1 paper
NM_024537.4
p.S475L
c.1424C>T
2 papers
NM_024537.4
p.V474I
c.1420G>A
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