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.K869delFs

c.2607delC

Surrounding Variants

3 papers

NM_020745.4

p.K869K

c.2607G>A

14 papers

NM_020745.4

p.T871fs

c.2611_2612fs

1 paper

NM_020745.4

p.T871I

c.2612C>T

11 papers

NM_020745.4

p.T871insFs

c.2611_2612insA

2 papers

NM_020745.4

p.T871fs

c.2611_2612fs

1 paper

NM_020745.4

p.Q866_A867Splc

c.2599-1G>T

1 paper

NM_020745.4

p.Q866_A867Splc

c.2599-1G>A

1 paper

NM_020745.4

p.L875P

c.2624T>C

1 paper

NM_020745.4

p.R877W

c.2629C>T

1 paper

NM_020745.4

p.R877Q

c.2630G>A

1 paper

NM_020745.4

p.H878N

c.2632C>A

1 paper

NM_020745.4

p.S879L

c.2636C>T