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.W22R

c.64T>C

Surrounding Variants

1 paper

NM_020745.4

p.W22R

c.64T>A

1 paper

NM_020745.4

p.A21A

c.63A>C

1 paper

NM_020745.4

p.P20P

c.60C>T

1 paper

NM_020745.4

p.R23fs

c.67_68fs

1 paper

NM_020745.4

p.G24C

c.70G>T

1 paper

NM_020745.4

p.S19S

c.57G>C

1 paper

NM_020745.4

p.R23_G24delFs

c.67_70del4

1 paper

NM_020745.4

p.G24G

c.72C>G

1 paper

NM_020745.4

p.L25I

c.73C>A

1 paper

NM_020745.4

p.S26G

c.76A>G

1 paper

NM_020745.4

p.S26R

c.76A>C

2 papers

NM_020745.4

p.S26N

c.77G>A