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

20 papers

NM_018122.5

p.R179H

c.536G>A

Surrounding Variants

2 papers

NM_018122.5

p.R179C

c.535C>T

13 papers

NM_018122.5

p.Q184K

c.550C>A

1 paper

NM_018122.5

p.R174H

c.521G>A

4 papers

NM_018122.5

p.R174C

c.520C>T

1 paper

NM_018122.5

p.Y173C

c.518A>G

3 papers

NM_018122.5

p.Y173H

c.517T>C

1 paper

NM_018122.5

p.Q172L

c.515A>T

1 paper

NM_018122.5

p.L171F

c.513G>C

1 paper

NM_018122.5

p.L171F

c.513G>T

3 papers

NM_018122.5

p.R188*

c.562C>T

5 papers

NM_018122.5

p.R188Q

c.563G>A

1 paper

NM_018122.5

p.R170Q

c.509G>A