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.Q81P

c.242A>C

Surrounding Variants

1 paper

NM_020745.4

p.Q81_F82Splc

c.243+1G>C

3 papers

NM_020745.4

p.M79K

c.236T>A

1 paper

NM_020745.4

p.Q81_F82Splc

c.243+5G>T

2 papers

NM_020745.4

p.Q81_F82Splc

c.243+6G>A

1 paper

NM_020745.4

p.G78insFs

c.232_233insG

1 paper

NM_020745.4

p.G78fs

c.232_233fs

1 paper

NM_020745.4

p.G78G

c.234C>A

1 paper

NM_020745.4

p.G78delFs

c.233delC

1 paper

NM_020745.4

p.A77_G78delFs

c.231_232delCC

12 papers

NM_020745.4

p.A77V

c.230C>T

1 paper

NM_020745.4

p.N76S

c.227A>G

1 paper

NM_020745.4

p.Q81_F82Splc

c.243+19T>C