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.G569R

c.1705G>C

Surrounding Variants

1 paper

NM_020745.4

p.G569R

c.1705G>A

5 papers

NM_020745.4

p.Q568delFs

c.1703_1704delCT

3 papers

NM_020745.4

p.Q568fs

c.1702_1703fs

4 papers

NM_020745.4

p.G570fs

c.1708_1709fs

1 paper

NM_020745.4

p.G570G

c.1710C>G

8 papers

NM_020745.4

p.G570delFs

c.1709delC

1 paper

NM_020745.4

p.E567*

c.1699G>T

1 paper

NM_020745.4

p.E567K

c.1699G>A

1 paper

NM_020745.4

p.A566T

c.1696G>A

1 paper

NM_020745.4

p.Y565*

c.1695C>G

1 paper

NM_020745.4

p.Y565*

c.1695C>A

1 paper

NM_020745.4

p.F564S

c.1691T>C