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.T782I

c.2345C>T

Surrounding Variants

8 papers

NM_020745.4

p.E784fs

c.2350_2351fs

8 papers

NM_020745.4

p.E784delFs

c.2350delC

1 paper

NM_020745.4

p.Q785E

c.2353C>G

1 paper

NM_020745.4

p.L779P

c.2336T>C

1 paper

NM_020745.4

p.A786T

c.2356G>A

1 paper

NM_020745.4

p.R777H

c.2330G>A

1 paper

NM_020745.4

p.R777C

c.2329C>T

1 paper

NM_020745.4

p.Q788E

c.2362C>G

1 paper

NM_020745.4

p.G774G

c.2322C>T

1 paper

NM_020745.4

p.Q788_A789Splc

c.2364+4A>T

1 paper

NM_020745.4

p.Q770*

c.2308C>T

1 paper

NM_020745.4

p.Q788_A789Splc

c.2364+19C>G