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.L601Q

c.1802T>A

Surrounding Variants

1 paper

NM_020745.4

p.E603G

c.1808A>G

1 paper

NM_020745.4

p.E603D

c.1809G>T

1 paper

NM_020745.4

p.E603D

c.1809G>C

3 papers

NM_020745.4

p.G598A

c.1793G>C

1 paper

NM_020745.4

p.A604V

c.1811C>T

1 paper

NM_020745.4

p.C596C

c.1788T>C

1 paper

NM_020745.4

p.P607S

c.1819C>T

1 paper

NM_020745.4

p.E608K

c.1822G>A

37 papers

NM_020745.4

p.R592W

c.1774C>T

1 paper

NM_020745.4

p.R592R

c.1774C>A

1 paper

NM_020745.4

p.R611W

c.1831C>T

1 paper

NM_020745.4

p.R611Q

c.1832G>A