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

3 papers

NM_020745.4

p.R554C

c.1660C>T

Surrounding Variants

1 paper

NM_020745.4

p.R554H

c.1661G>A

1 paper

NM_020745.4

p.R554R

c.1662C>T

4 papers

NM_020745.4

p.G550A

c.1649G>C

2 papers

NM_020745.4

p.V549M

c.1645G>A

1 paper

NM_020745.4

p.S548S

c.1644C>T

1 paper

NM_020745.4

p.S548S

c.1644C>A

2 papers

NM_020745.4

p.D560V

c.1679A>T

1 paper

NM_020745.4

p.A547S

c.1639G>T

1 paper

NM_020745.4

p.R561R

c.1681A>C

1 paper

NM_020745.4

p.R561T

c.1682G>C

1 paper

NM_020745.4

p.V546insFs

c.1636_1637insAA

1 paper

NM_020745.4

p.T562I

c.1685C>T