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.F608L

c.1822T>C

Surrounding Variants

1 paper

NM_018122.5

p.F608L

c.1824C>A

1 paper

NM_018122.5

p.F608L

c.1824C>G

8 papers

NM_018122.5

p.R609W

c.1825C>T

2 papers

NM_018122.5

p.K606M

c.1817A>T

11 papers

NM_018122.5

p.L613F

c.1837C>T

2 papers

NM_018122.5

p.S597G

c.1789A>G

1 paper

NM_018122.5

p.S620F

c.1859C>T

1 paper

NM_018122.5

p.S595F

c.1784C>T

1 paper

NM_018122.5

p.G594E

c.1781G>A

1 paper

NM_018122.5

p.C590S

c.1769G>C

11 papers

NM_018122.5

p.L626V

c.1876C>G

1 paper

NM_018122.5

p.C590S

c.1768T>A