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

1–12 of 128 variants

19 papers

NM_001083614.2

p.R108W

c.322C>T

13 papers

NM_001083614.2

p.G110S

c.328G>A

9 papers

NM_001083614.2

p.K65E

c.193A>G

8 papers

NM_001083614.2

p.R107C

c.319C>T

7 papers

NM_001083614.2

p.E96K

c.286G>A

7 papers

NM_001083614.2

p.G204S

c.610G>A

6 papers

NM_001083614.2

p.R55H

c.164G>A

6 papers

NM_001083614.2

p.R107H

c.320G>A

6 papers

NM_001083614.2

p.C167Y

c.500G>A

6 papers

NM_001083614.2

p.G224S

c.670G>A

6 papers

NM_001083614.2

p.G317C

c.949G>T

5 papers

NM_001083614.2

p.I62F

c.184A>T