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

1–12 of 178 variants

16 papers

NM_024678.6

p.H167R

c.500A>G

14 papers

NM_024678.6

p.Q274H

c.822G>C

13 papers

NM_024678.6

p.P214L

c.641C>T

13 papers

NM_024678.6

p.A244G

c.731C>G

12 papers

NM_024678.6

p.R51C

c.151C>T

12 papers

NM_024678.6

p.Q274H

c.822G>T

12 papers

NM_024678.6

p.Y323*

c.969T>A

12 papers

NM_024678.6

p.R418H

c.1253G>A

11 papers

NM_024678.6

p.Q56R

c.167A>G

11 papers

NM_024678.6

p.V213F

c.637G>T

11 papers

NM_024678.6

p.N381S

c.1142A>G

11 papers

NM_024678.6

p.R451C

c.1351C>T