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.L642L

c.1926G>A

Surrounding Variants

1 paper

NM_020745.4

p.R643fs

c.1927_1928fs

2 papers

NM_020745.4

p.G647_P648insG

c.1939_1943ins3

1 paper

NM_020745.4

p.G647delFs

c.1940delC

1 paper

NM_020745.4

p.A641_G647delFs

c.1923_1941del19

1 paper

NM_020745.4

p.T635N

c.1904C>A

1 paper

NM_020745.4

p.H632R

c.1895A>G

1 paper

NM_020745.4

p.G654V

c.1961G>T

1 paper

NM_020745.4

p.A630A

c.1890G>A

1 paper

NM_020745.4

p.A630T

c.1888G>A

1 paper

NM_020745.4

p.H656fs

c.1966_1967fs

1 paper

NM_020745.4

p.H656delFs

c.1966delG

3 papers

NM_020745.4

p.L626Q

c.1877T>A