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.Y305fs

c.913_914fs

Surrounding Variants

1 paper

NM_020745.4

p.Y305Y

c.915C>T

1 paper

NM_020745.4

p.Y305_L306delFs

c.914_917del4

1 paper

NM_020745.4

p.R308R

c.922C>A

1 paper

NM_020745.4

p.R308Q

c.923G>A

1 paper

NM_020745.4

p.P303T

c.907C>A

1 paper

NM_020745.4

p.G310_V311insC

c.928_932ins3

1 paper

NM_020745.4

p.G310V

c.929G>T

1 paper

NM_020745.4

p.G310E

c.929G>A

1 paper

NM_020745.4

p.G310G

c.930G>A

1 paper

NM_020745.4

p.D313G

c.938A>G

2 papers

NM_020745.4

p.E314K

c.940G>A

1 paper

NM_020745.4

p.E314delFs

c.941delT