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

10 papers

NM_020745.4

p.Q537*

c.1609C>T

Surrounding Variants

8 papers

NM_020745.4

p.Y539C

c.1616A>G

4 papers

NM_020745.4

p.E541K

c.1621G>A

1 paper

NM_020745.4

p.E532G

c.1595A>G

1 paper

NM_020745.4

p.D542D

c.1626C>T

3 papers

NM_020745.4

p.G543R

c.1627G>C

2 papers

NM_020745.4

p.G543R

c.1627G>A

1 paper

NM_020745.4

p.G529G

c.1587C>T

1 paper

NM_020745.4

p.T544T

c.1632A>G

1 paper

NM_020745.4

p.F528F

c.1584C>T

1 paper

NM_020745.4

p.V546insFs

c.1636_1637insAA

1 paper

NM_020745.4

p.A547S

c.1639G>T

1 paper

NM_020745.4

p.S548S

c.1644C>T