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.R162W

c.484C>T

Surrounding Variants

1 paper

NM_001083614.2

p.Y163Y

c.489T>C

1 paper

NM_001083614.2

p.R162Splc

c.486-7C>G

1 paper

NM_001083614.2

p.R166Q

c.497G>A

6 papers

NM_001083614.2

p.C167Y

c.500G>A

5 papers

NM_001083614.2

p.R168G

c.502A>G

1 paper

NM_001083614.2

p.S171S

c.513C>T

1 paper

NM_001083614.2

p.V194M

c.580G>A

1 paper

NM_001083614.2

p.F198S

c.593T>C

1 paper

NM_001083614.2

p.Q199R

c.596A>G

1 paper

NM_001083614.2

p.D200N

c.598G>A

7 papers

NM_001083614.2

p.G204S

c.610G>A

1 paper

NM_001083614.2

p.S212R

c.636C>A