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

1–12 of 291 variants

33 papers

NM_018122.5

p.K164_K165Splc

c.492+2T>C

29 papers

NM_018122.5

p.C152F

c.455G>T

20 papers

NM_018122.5

p.R179H

c.536G>A

19 papers

NM_018122.5

p.R263Q

c.788G>A

15 papers

NM_018122.5

p.R58G

c.172C>G

13 papers

NM_018122.5

p.Q184K

c.550C>A

12 papers

NM_018122.5

p.L626Q

c.1877T>A

11 papers

NM_018122.5

p.R76Splc

c.228-16C>A

11 papers

NM_018122.5

p.L613F

c.1837C>T

11 papers

NM_018122.5

p.L626V

c.1876C>G

10 papers

NM_018122.5

p.S45G

c.133A>G

10 papers

NM_018122.5

p.T136S

c.406A>T