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.E622_A623Splc

c.1867-23G>A

Surrounding Variants

1 paper

NM_020745.4

p.E622_A623Splc

c.1867-13A>C

1 paper

NM_020745.4

p.E622_A623Splc

c.1867-11A>C

1 paper

NM_020745.4

p.E622_A623Splc

c.1867-6T>G

1 paper

NM_020745.4

p.E622_A623Splc

c.1867-2A>G

1 paper

NM_020745.4

p.A623V

c.1868C>T

5 papers

NM_020745.4

p.W624*

c.1871G>A

4 papers

NM_020745.4

p.W624*

c.1872G>A

2 papers

NM_020745.4

p.R625C

c.1873C>T

4 papers

NM_020745.4

p.R625H

c.1874G>A

1 paper

NM_020745.4

p.L626L

c.1876C>T

2 papers

NM_020745.4

p.L626V

c.1876C>G

3 papers

NM_020745.4

p.L626Q

c.1877T>A