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.S4P

c.10T>C

Surrounding Variants

1 paper

NM_020745.4

p.S4T

c.10T>A

2 papers

NM_020745.4

p.A3G

c.8C>G

1 paper

NM_020745.4

p.A3T

c.7G>A

1 paper

NM_020745.4

p.A2T

c.4G>A

2 papers

NM_020745.4

p.M1I

c.3G>T

1 paper

NM_020745.4

p.M1I

c.3G>C

2 papers

NM_020745.4

p.M1I

c.3G>A

1 paper

NM_020745.4

p.A6V

c.17C>T

1 paper

NM_020745.4

p.M1insFs

c.1dupA

2 papers

NM_020745.4

p.M1T

c.2T>C

1 paper

NM_020745.4

p.M1K

c.2T>A

1 paper

NM_020745.4

p.A7P

c.19G>C