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.Y226Y

c.678C>T

Surrounding Variants

1 paper

NM_020745.4

p.D227N

c.679G>A

1 paper

NM_020745.4

p.L228F

c.682C>T

1 paper

NM_020745.4

p.H225Y

c.673C>T

1 paper

NM_020745.4

p.I224N

c.671T>A

2 papers

NM_020745.4

p.I224L

c.670A>C

2 papers

NM_020745.4

p.T222I

c.665C>T

1 paper

NM_020745.4

p.G231_V232del2

c.691_695del6

1 paper

NM_020745.4

p.C218fs

c.652_653fs

2 papers

NM_020745.4

p.P235T

c.703C>A

6 papers

NM_020745.4

p.C218fs

c.652_653fs

1 paper

NM_020745.4

p.P217P

c.651T>C

1 paper

NM_020745.4

p.Q236fs

c.706_707fs