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.I419I

c.1257T>C

Surrounding Variants

2 papers

NM_020745.4

p.R421W

c.1261C>T

1 paper

NM_020745.4

p.R421L

c.1262G>T

2 papers

NM_020745.4

p.R421Q

c.1262G>A

1 paper

NM_020745.4

p.I418L

c.1252A>C

1 paper

NM_020745.4

p.R417Q

c.1250G>A

1 paper

NM_020745.4

p.R417W

c.1249C>T

1 paper

NM_020745.4

p.R417R

c.1249C>A

1 paper

NM_020745.4

p.G415D

c.1244G>A

1 paper

NM_020745.4

p.R414Q

c.1241G>A

1 paper

NM_020745.4

p.L412L

c.1236G>A

2 papers

NM_020745.4

p.G427ins1

c.1279_1280insTCC

1 paper

NM_020745.4

p.G427G

c.1281G>A