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.M212insFs

c.634_635ins5

Surrounding Variants

2 papers

NM_020745.4

p.M212I

c.636G>T

2 papers

NM_020745.4

p.M212I

c.636G>C

2 papers

NM_020745.4

p.M212I

c.636G>A

1 paper

NM_020745.4

p.E211K

c.631G>A

1 paper

NM_020745.4

p.G213G

c.639G>A

1 paper

NM_020745.4

p.D214V

c.641A>T

1 paper

NM_020745.4

p.G216R

c.646G>C

8 papers

NM_020745.4

p.G216insFs

c.647dupG

1 paper

NM_020745.4

p.P217S

c.649C>T

7 papers

NM_020745.4

p.P217L

c.650C>T

1 paper

NM_020745.4

p.P217P

c.651T>C

6 papers

NM_020745.4

p.C218fs

c.652_653fs