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

5 papers

NM_152268.4

p.N235S

c.704A>G

Surrounding Variants

1 paper

NM_152268.4

p.K236E

c.706A>G

1 paper

NM_152268.4

p.H257R

c.770A>G

1 paper

NM_152268.4

p.Y210H

c.628T>C

1 paper

NM_152268.4

p.G266E

c.797G>A

9 papers

NM_152268.4

p.E203K

c.607G>A

4 papers

NM_152268.4

p.R202G

c.604C>G

1 paper

NM_152268.4

p.R269Q

c.806G>A

1 paper

NM_152268.4

p.L270fs

c.808_809fs

1 paper

NM_152268.4

p.L270ins2

c.809_810ins6

1 paper

NM_152268.4

p.L198P

c.593T>C

10 papers

NM_152268.4

p.S279L

c.836C>T

1 paper

NM_152268.4

p.A280V

c.839C>T