Varaico: Literature-Extracted Genetic Variants

DARS2

247 papers

RefSeq Summary

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associ...

Pfam Domains

tRNA_anti-codonaa 66–149UCSCOB-fold nucleic acid binding domain

tRNA-synt_2aa 166–608UCSCtRNA synthetases class II (D, K and N)

GADaa 356–452UCSCGAD domain

Gene Aliases

HGNC Name

aspartyl-tRNA synthetase 2, mitochondrial

HGNC Alias Symbols

FLJ10514; mtAspRS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018122.5

p.G55E

c.164G>A

Surrounding Variants

1 paper

NM_018122.5

p.E56insFs

c.168dupG

2 papers

NM_018122.5

p.C54insFs

c.161dupG

1 paper

NM_018122.5

p.C54fs

c.160_161fs

15 papers

NM_018122.5

p.R58G

c.172C>G

1 paper

NM_018122.5

p.N52K

c.156C>G

2 papers

NM_018122.5

p.N52S

c.155A>G

1 paper

NM_018122.5

p.S59L

c.176C>T

4 papers

NM_018122.5

p.V48F

c.142G>T

1 paper

NM_018122.5

p.G63R

c.187G>C

1 paper

NM_018122.5

p.G63V

c.188G>T

10 papers

NM_018122.5

p.S45G

c.133A>G

1 paper

NM_018122.5

p.F44insFs

c.132dupC