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

2 papers

NM_020745.4

p.P235T

c.703C>A

Surrounding Variants

1 paper

NM_020745.4

p.Q236fs

c.706_707fs

1 paper

NM_020745.4

p.A234insFs

c.701dupC

1 paper

NM_020745.4

p.G231_V232del2

c.691_695del6

1 paper

NM_020745.4

p.Q236delFs

c.706delG

1 paper

NM_020745.4

p.L237L

c.711G>A

1 paper

NM_020745.4

p.L240F

c.718C>T

1 paper

NM_020745.4

p.L240I

c.718C>A

2 papers

NM_020745.4

p.W241R

c.721T>C

2 papers

NM_020745.4

p.W241R

c.721T>A

1 paper

NM_020745.4

p.L228F

c.682C>T

2 papers

NM_020745.4

p.N242N

c.726C>T

1 paper

NM_020745.4

p.D227N

c.679G>A