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.L970L

c.2908C>T

Surrounding Variants

1 paper

NM_020745.4

p.D969G

c.2906A>G

2 papers

NM_020745.4

p.D969Y

c.2905G>T

13 papers

NM_020745.4

p.G965R

c.2893G>C

14 papers

NM_020745.4

p.G965R

c.2893G>A

1 paper

NM_020745.4

p.T964T

c.2892C>T

1 paper

NM_020745.4

p.I976M

c.2928A>G

1 paper

NM_020745.4

p.Q962*

c.2884C>T

7 papers

NM_020745.4

p.A961V

c.2882C>T

1 paper

NM_020745.4

p.T979T

c.2937C>G

6 papers

NM_020745.4

p.R958*

c.2872C>T

3 papers

NM_020745.4

p.S957S

c.2871A>G

1 paper

NM_020745.4

p.S957L

c.2870C>T