Varaico: Literature-Extracted Genetic Variants

NARS2

144 papers

RefSeq Summary

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. T...

Pfam Domains

tRNA-synt_2aa 1–236UCSCtRNA synthetases class II (D, K and N)

tRNA_anti-codonaa 44–118UCSCOB-fold nucleic acid binding domain

Gene Aliases

HGNC Name

asparaginyl-tRNA synthetase 2, mitochondrial

HGNC Previous Symbol

DFNB94

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_024678.6

p.Y323*

c.969T>A

Surrounding Variants

9 papers

NM_024678.6

p.Y323*

c.969T>G

1 paper

NM_024678.6

p.Y323C

c.968A>G

1 paper

NM_001243251.2

p.K104*

c.310A>T

1 paper

NM_024678.6

p.E342_W343Splc

c.1026+2T>G

1 paper

NM_024678.6

p.E342_W343Splc

c.1027-1252G>T

1 paper

NM_024678.6

p.G344R

c.1030G>C

1 paper

NM_024678.6

p.D346Y

c.1036G>T

1 paper

NM_024678.6

p.E352K

c.1054G>A

1 paper

NM_024678.6

p.N368ins2

c.1102_1103ins6

1 paper

NM_024678.6

p.M378L

c.1132A>T

1 paper

NM_024678.6

p.M378L

c.1132A>C

1 paper

NM_024678.6

p.M378I

c.1134G>T