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.V496I

c.1486G>A

Surrounding Variants

1 paper

NM_020745.4

p.A498T

c.1492G>A

1 paper

NM_020745.4

p.L499R

c.1496T>G

1 paper

NM_020745.4

p.L492L

c.1474T>C

1 paper

NM_020745.4

p.L502Q

c.1505T>A

1 paper

NM_020745.4

p.L502L

c.1506G>A

1 paper

NM_020745.4

p.R504L

c.1511G>T

1 paper

NM_020745.4

p.R504H

c.1511G>A

3 papers

NM_020745.4

p.V507L

c.1519G>T

3 papers

NM_020745.4

p.V507L

c.1519G>C

1 paper

NM_020745.4

p.Q483*

c.1447C>T

2 papers

NM_020745.4

p.R482Q

c.1445G>A

1 paper

NM_020745.4

p.R482W

c.1444C>T