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.A44A

c.132C>T

Surrounding Variants

2 papers

NM_020745.4

p.A44P

c.130G>C

1 paper

NM_020745.4

p.P34_L47delFs

c.102_139del38

1 paper

NM_020745.4

p.A41T

c.121G>A

1 paper

NM_020745.4

p.S31_A39del9

c.91_116del27

1 paper

NM_020745.4

p.S40L

c.119C>T

1 paper

NM_020745.4

p.F49F

c.147C>T

1 paper

NM_020745.4

p.A39fs

c.115_116fs

1 paper

NM_020745.4

p.A39insFs

c.115dupG

15 papers

NM_020745.4

p.F50C

c.149T>G

1 paper

NM_020745.4

p.A39S

c.115G>T

1 paper

NM_020745.4

p.L47_F50delFs

c.141_150del10

1 paper

NM_020745.4

p.N48_F50delFs

c.144_150del7