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

11 papers

NM_018122.5

p.R76Splc

c.228-16C>A

Surrounding Variants

5 papers

NM_018122.5

p.R76Splc

c.228-16C>G

6 papers

NM_018122.5

p.R76Splc

c.228-15C>A

5 papers

NM_018122.5

p.R76Splc

c.228-17C>G

3 papers

NM_018122.5

p.R76Splc

c.228-15C>G

3 papers

NM_018122.5

p.R76Splc

c.228-12C>A

8 papers

NM_018122.5

p.R76Splc

c.228-12C>G

4 papers

NM_018122.5

p.R76Splc

c.228-20T>C

4 papers

NM_018122.5

p.R76Splc

c.228-11C>G

2 papers

NM_018122.5

p.R76Splc

c.228-21T>C

4 papers

NM_018122.5

p.R76Splc

c.228-10C>A

5 papers

NM_018122.5

p.R76Splc

c.228-22T>A

1 paper

NM_018122.5

p.N78delFs

c.233delA