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.P522R

c.1565C>G

Surrounding Variants

1 paper

NM_020745.4

p.P522S

c.1564C>T

14 papers

NM_020745.4

p.R521*

c.1561C>T

1 paper

NM_020745.4

p.S523S

c.1569C>T

1 paper

NM_020745.4

p.G524R

c.1570G>C

1 paper

NM_020745.4

p.G524R

c.1570G>A

1 paper

NM_020745.4

p.L520L

c.1558C>T

1 paper

NM_020745.4

p.Y526Y

c.1578T>C

1 paper

NM_020745.4

p.E527Splc

c.1579+8C>A

2 papers

NM_020745.4

p.D512H

c.1534G>C

1 paper

NM_020745.4

p.D511D

c.1533C>T

1 paper

NM_020745.4

p.T510I

c.1529C>T

3 papers

NM_020745.4

p.V507L

c.1519G>T