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

15 papers

NM_020745.4

p.F50C

c.149T>G

Surrounding Variants

1 paper

NM_020745.4

p.F49F

c.147C>T

1 paper

NM_020745.4

p.L47_F50delFs

c.141_150del10

1 paper

NM_020745.4

p.N48_F50delFs

c.144_150del7

1 paper

NM_020745.4

p.N48_R51delFs

c.142_151del10

1 paper

NM_020745.4

p.D52A

c.155A>C

1 paper

NM_020745.4

p.D52E

c.156C>G

1 paper

NM_020745.4

p.P34_L47delFs

c.102_139del38

1 paper

NM_020745.4

p.H54H

c.162T>C

1 paper

NM_020745.4

p.G55D

c.164G>A

1 paper

NM_020745.4

p.A44A

c.132C>T

2 papers

NM_020745.4

p.A44P

c.130G>C

2 papers

NM_020745.4

p.L58V

c.172C>G