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

8 papers

NM_001083614.2

p.R107C

c.319C>T

Surrounding Variants

6 papers

NM_001083614.2

p.R107H

c.320G>A

19 papers

NM_001083614.2

p.R108W

c.322C>T

1 paper

NM_001083614.2

p.G109R

c.325G>C

13 papers

NM_001083614.2

p.G110S

c.328G>A

1 paper

NM_001083614.2

p.A112P

c.334G>C

1 paper

NM_001083614.2

p.P101L

c.302C>T

1 paper

NM_001083614.2

p.Q116L

c.347A>T

2 papers

NM_001083614.2

p.R120W

c.358C>T

1 paper

NM_001083614.2

p.L123Q

c.368T>A

2 papers

NM_001083614.2

p.Q126*

c.376C>T

1 paper

NM_001083614.2

p.C140fs

c.418_419fs

1 paper

NM_001083614.2

p.P139_C140delFs

c.417_418delAG