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

6 papers

NM_018122.5

p.Y629C

c.1886A>G

Surrounding Variants

12 papers

NM_018122.5

p.L626Q

c.1877T>A

11 papers

NM_018122.5

p.L626V

c.1876C>G

1 paper

NM_018122.5

p.S620F

c.1859C>T

1 paper

NM_018122.5

p.K640delFs

c.1919_1920delAA

1 paper

NM_018122.5

p.R643T

c.1928G>C

1 paper

NM_018122.5

p.A644G

c.1931C>G

1 paper

NM_018122.5

p.H645P

c.1934A>C

11 papers

NM_018122.5

p.L613F

c.1837C>T

8 papers

NM_018122.5

p.R609W

c.1825C>T

1 paper

NM_018122.5

p.F608L

c.1824C>A

1 paper

NM_018122.5

p.F608L

c.1824C>G

1 paper

NM_018122.5

p.F608L

c.1822T>C