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.S957S

c.2871A>G

Surrounding Variants

6 papers

NM_020745.4

p.R958*

c.2872C>T

1 paper

NM_020745.4

p.S957L

c.2870C>T

1 paper

NM_020745.4

p.W955*

c.2865G>A

1 paper

NM_020745.4

p.W955*

c.2864G>A

1 paper

NM_020745.4

p.A954V

c.2861C>T

1 paper

NM_020745.4

p.A954T

c.2860G>A

7 papers

NM_020745.4

p.A961V

c.2882C>T

1 paper

NM_020745.4

p.Q962*

c.2884C>T

1 paper

NM_020745.4

p.M950I

c.2850G>T

1 paper

NM_020745.4

p.M950I

c.2850G>C

1 paper

NM_020745.4

p.M950I

c.2850G>A

1 paper

NM_020745.4

p.T964T

c.2892C>T