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.L734L

c.2202G>A

Surrounding Variants

1 paper

NM_020745.4

p.L734L

c.2200T>C

1 paper

NM_020745.4

p.P736L

c.2207C>T

1 paper

NM_020745.4

p.H732R

c.2195A>G

1 paper

NM_020745.4

p.A737G

c.2210C>G

16 papers

NM_020745.4

p.V730M

c.2188G>A

1 paper

NM_020745.4

p.P729P

c.2187C>T

1 paper

NM_020745.4

p.A740V

c.2219C>T

1 paper

NM_020745.4

p.P729S

c.2185C>T

1 paper

NM_020745.4

p.A740A

c.2220C>T

1 paper

NM_020745.4

p.A741T

c.2221G>A

5 papers

NM_020745.4

p.S745fs

c.2233_2234fs

1 paper

NM_020745.4

p.V723A

c.2168T>C