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

4 papers

NM_020745.4

p.R322H

c.965G>A

Surrounding Variants

2 papers

NM_020745.4

p.R322C

c.964C>T

1 paper

NM_020745.4

p.R322R

c.966C>T

2 papers

NM_020745.4

p.V323M

c.967G>A

4 papers

NM_020745.4

p.Y321*

c.963C>G

5 papers

NM_020745.4

p.Y321*

c.963C>A

1 paper

NM_020745.4

p.Y321H

c.961T>C

1 paper

NM_020745.4

p.A320A

c.960G>A

1 paper

NM_020745.4

p.A320V

c.959C>T

2 papers

NM_020745.4

p.R316H

c.947G>A

1 paper

NM_020745.4

p.R316C

c.946C>T

5 papers

NM_020745.4

p.I328M

c.984C>G

2 papers

NM_020745.4

p.R329C

c.985C>T