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.R65W

c.193C>T

Surrounding Variants

1 paper

NM_020745.4

p.P66L

c.197C>T

1 paper

NM_020745.4

p.G68G

c.204C>G

1 paper

NM_020745.4

p.S61Y

c.182C>A

7 papers

NM_020745.4

p.P60H

c.179C>A

1 paper

NM_020745.4

p.V59G

c.176T>G

2 papers

NM_020745.4

p.S71C

c.211A>T

1 paper

NM_020745.4

p.R67_P70del4

c.199_209del12

1 paper

NM_020745.4

p.L58P

c.173T>C

2 papers

NM_020745.4

p.L58V

c.172C>G

1 paper

NM_020745.4

p.L73F

c.217C>T

1 paper

NM_020745.4

p.L73V

c.217C>G

1 paper

NM_020745.4

p.F74Y

c.221T>A