Varaico: Literature-Extracted Genetic Variants

AARS2

324 papers

RefSeq Summary

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino...

Pfam Domains

tRNA-synt_2caa 41–624UCSCtRNA synthetases class II (A)

tRNA_SADaa 721–778UCSCThreonyl and Alanyl tRNA synthetase second additional domain

Gene Aliases

HGNC Name

alanyl-tRNA synthetase 2, mitochondrial

HGNC Previous Symbol

AARSL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020745.4

p.A152V

c.455C>T

Surrounding Variants

1 paper

NM_020745.4

p.A152G

c.455C>G

2 papers

NM_020745.4

p.A152D

c.455C>A

1 paper

NM_020745.4

p.A152T

c.454G>A

1 paper

NM_020745.4

p.A152A

c.456C>T

1 paper

NM_020745.4

p.N150_A152del0

c.448_456del9

14 papers

NM_020745.4

p.M151T

c.452T>C

1 paper

NM_020745.4

p.W153*

c.458G>A

1 paper

NM_020745.4

p.W153*

c.459G>A

15 papers

NM_020745.4

p.L155R

c.464T>G

4 papers

NM_020745.4

p.C149Y

c.446G>A

2 papers

NM_020745.4

p.L156V

c.466C>G

1 paper

NM_020745.4

p.L156R

c.467T>G