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.R146W

c.436C>T

Surrounding Variants

1 paper

NM_001083614.2

p.L147Q

c.440T>A

1 paper

NM_001083614.2

p.S143*

c.428C>G

1 paper

NM_001083614.2

p.S143*

c.428C>A

1 paper

NM_001083614.2

p.C142S

c.425G>C

1 paper

NM_001083614.2

p.C142S

c.424T>A

1 paper

NM_001083614.2

p.K151R

c.452A>G

1 paper

NM_001083614.2

p.P139_C140delFs

c.417_418delAG

1 paper

NM_001083614.2

p.C140fs

c.418_419fs

2 papers

NM_001083614.2

p.K152del1

c.454_455delCTT

1 paper

NM_001083614.2

p.R156Q

c.467G>A

1 paper

NM_001083614.2

p.Q159R

c.476A>G

1 paper

NM_001083614.2

p.R162W

c.484C>T