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.V814M

c.2440G>A

Surrounding Variants

1 paper

NM_020745.4

p.A815V

c.2444C>T

1 paper

NM_020745.4

p.A815A

c.2445G>A

1 paper

NM_020745.4

p.R812Q

c.2435G>A

1 paper

NM_020745.4

p.L809Q

c.2426T>A

1 paper

NM_020745.4

p.L820L

c.2458C>T

1 paper

NM_020745.4

p.R806Q

c.2417G>A

3 papers

NM_020745.4

p.R806W

c.2416C>T

1 paper

NM_020745.4

p.E805K

c.2413G>A

1 paper

NM_020745.4

p.I824T

c.2471T>C

2 papers

NM_020745.4

p.G825R

c.2473G>A

1 paper

NM_020745.4

p.I824del1

c.2470_2472delTAT

1 paper

NM_020745.4

p.G825A

c.2474G>C