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

1–12 of 824 variants

37 papers

NM_020745.4

p.R592W

c.1774C>T

33 papers

NM_020745.4

p.R199C

c.595C>T

20 papers

NM_020745.4

p.R329H

c.986G>A

16 papers

NM_020745.4

p.V730M

c.2188G>A

15 papers

NM_020745.4

p.F50C

c.149T>G

15 papers

NM_020745.4

p.L155R

c.464T>G

15 papers

NM_020745.4

p.E405K

c.1213G>A

14 papers

NM_020745.4

p.M151T

c.452T>C

14 papers

NM_020745.4

p.R521*

c.1561C>T

14 papers

NM_020745.4

p.T871fs

c.2611_2612fs

14 papers

NM_020745.4

p.G965R

c.2893G>A

13 papers

NM_020745.4

p.G965R

c.2893G>C