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.V333F

c.997G>T

Surrounding Variants

1 paper

NM_020745.4

p.V333I

c.997G>A

1 paper

NM_020745.4

p.S332N

c.995G>A

20 papers

NM_020745.4

p.R329H

c.986G>A

1 paper

NM_020745.4

p.R329delFs

c.985delG

4 papers

NM_020745.4

p.S336insFs

c.1008dupT

2 papers

NM_020745.4

p.D337H

c.1009G>C

2 papers

NM_020745.4

p.D337N

c.1009G>A

2 papers

NM_020745.4

p.R329C

c.985C>T

1 paper

NM_020745.4

p.R329fs

c.985_986fs

5 papers

NM_020745.4

p.I328M

c.984C>G

1 paper

NM_020745.4

p.D337G

c.1010A>G

7 papers

NM_020745.4

p.I339V

c.1015A>G