Varaico: Literature-Extracted Genetic Variants

EARS2

148 papers

RefSeq Summary

This gene encodes a 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. This protei...

Pfam Domains

tRNA-synt_1caa 36–353UCSCtRNA synthetases class I (E and Q), catalytic domain

Anticodon_2aa 345–521UCSCAnticodon binding domain

Gene Aliases

HGNC Name

glutamyl-tRNA synthetase 2, mitochondrial

HGNC Alias Symbols

KIAA1970; MSE1; mtGlnRS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001083614.2

p.A88E

c.263C>A

Surrounding Variants

1 paper

NM_001083614.2

p.A88V

c.263C>T

7 papers

NM_001083614.2

p.E96K

c.286G>A

2 papers

NM_001083614.2

p.A98V

c.293C>T

1 paper

NM_001083614.2

p.E76E

c.228G>A

2 papers

NM_001083614.2

p.S70I

c.209G>T

1 paper

NM_001083614.2

p.S70N

c.209G>A

1 paper

NM_001083614.2

p.K66*

c.196A>T

9 papers

NM_001083614.2

p.K65E

c.193A>G

5 papers

NM_001083614.2

p.I62F

c.184A>T

1 paper

NM_001083614.2

p.A57P

c.169G>C

2 papers

NM_001083614.2

p.R55L

c.164G>T

6 papers

NM_001083614.2

p.R55H

c.164G>A