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.H257R

c.770A>G

Surrounding Variants

1 paper

NM_001083614.2

p.L258P

c.773T>C

1 paper

NM_001083614.2

p.A263G

c.788C>G

1 paper

NM_001083614.2

p.R246Q

c.737G>A

1 paper

NM_001083614.2

p.P269H

c.806C>A

3 papers

NM_001083614.2

p.A272T

c.814G>A

2 papers

NM_001083614.2

p.G240R

c.718G>C

1 paper

NM_001083614.2

p.D236N

c.706G>A

1 paper

NM_001083614.2

p.D235D

c.705C>T

6 papers

NM_001083614.2

p.G224S

c.670G>A

4 papers

NM_001083614.2

p.G301A

c.902G>C

1 paper

NM_001083614.2

p.S212R

c.636C>A

1 paper

NM_001083614.2

p.P304H

c.911C>A