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.R580Q

c.1739G>A

Surrounding Variants

8 papers

NM_020745.4

p.R580W

c.1738C>T

1 paper

NM_020745.4

p.R580G

c.1738C>G

1 paper

NM_020745.4

p.L578_G582delFs

c.1732_1744del13

1 paper

NM_020745.4

p.E584K

c.1750G>A

1 paper

NM_020745.4

p.G576D

c.1727G>A

1 paper

NM_020745.4

p.E584E

c.1752G>A

1 paper

NM_020745.4

p.E584_D585Splc

c.1752+5G>A

1 paper

NM_020745.4

p.G570G

c.1710C>G

8 papers

NM_020745.4

p.G570delFs

c.1709delC

4 papers

NM_020745.4

p.G570fs

c.1708_1709fs

1 paper

NM_020745.4

p.G569R

c.1705G>C

1 paper

NM_020745.4

p.G569R

c.1705G>A