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.N399H

c.1195A>C

Surrounding Variants

2 papers

NM_020745.4

p.A398A

c.1194C>G

1 paper

NM_020745.4

p.N399S

c.1196A>G

1 paper

NM_020745.4

p.N399N

c.1197C>T

1 paper

NM_020745.4

p.A398T

c.1192G>A

1 paper

NM_020745.4

p.L400P

c.1199T>C

1 paper

NM_020745.4

p.I397I

c.1191C>T

1 paper

NM_020745.4

p.Q396_I397Splc

c.1189-1G>C

1 paper

NM_020745.4

p.E403_D404insT

c.1207_1211ins3

1 paper

NM_020745.4

p.Q396_I397Splc

c.1189-11G>C

1 paper

NM_020745.4

p.D404D

c.1212C>T

15 papers

NM_020745.4

p.E405K

c.1213G>A

1 paper

NM_020745.4

p.D404_A407ins1

c.1210_1221dup12