Varaico: Literature-Extracted Genetic Variants

PARS2

108 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_2baa 142–355UCSCtRNA synthetase class II core domain (G, H, P, S and T)

HGTP_anticodonaa 371–469UCSCAnticodon binding domain

Gene Aliases

HGNC Name

prolyl-tRNA synthetase 2, mitochondrial

HGNC Alias Symbol

DKFZp727A071

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_152268.4

p.R186G

c.556A>G

Surrounding Variants

2 papers

NM_152268.4

p.K187R

c.560A>G

1 paper

NM_152268.4

p.R189Q

c.566G>A

1 paper

NM_152268.4

p.L198P

c.593T>C

4 papers

NM_152268.4

p.R202G

c.604C>G

9 papers

NM_152268.4

p.E203K

c.607G>A

1 paper

NM_152268.4

p.Y210H

c.628T>C

1 paper

NM_152268.4

p.E159K

c.475G>A

2 papers

NM_152268.4

p.P156R

c.467C>G

1 paper

NM_152268.4

p.D146Y

c.436G>T

1 paper

NM_152268.4

p.D146N

c.436G>A

1 paper

NM_152268.4

p.E140K

c.418G>A

5 papers

NM_152268.4

p.N235S

c.704A>G