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

2 papers

NM_152268.4

p.P293A

c.877C>G

Surrounding Variants

1 paper

NM_152268.4

p.P293S

c.877C>T

1 paper

NM_152268.4

p.C292Y

c.875G>A

1 paper

NM_152268.4

p.A294G

c.881C>G

1 paper

NM_152268.4

p.G297R

c.889G>C

1 paper

NM_152268.4

p.L287F

c.861G>T

1 paper

NM_152268.4

p.L287F

c.861G>C

1 paper

NM_152268.4

p.K301E

c.901A>G

1 paper

NM_152268.4

p.G304S

c.910G>A

1 paper

NM_152268.4

p.N281N

c.843C>T

1 paper

NM_152268.4

p.A280V

c.839C>T

1 paper

NM_152268.4

p.E306*

c.916G>T

10 papers

NM_152268.4

p.S279L

c.836C>T