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

1–12 of 89 variants

18 papers

NM_152268.4

p.V95I

c.283G>A

11 papers

NM_152268.4

p.P364R

c.1091C>G

10 papers

NM_152268.4

p.S279L

c.836C>T

9 papers

NM_152268.4

p.E203K

c.607G>A

7 papers

NM_152268.4

p.I80T

c.239T>C

6 papers

NM_152268.4

p.P377insFs

c.1130dupC

5 papers

NM_152268.4

p.N235S

c.704A>G

4 papers

NM_152268.4

p.R28S

c.84G>T

4 papers

NM_152268.4

p.R28S

c.84G>C

4 papers

NM_152268.4

p.R103*

c.307C>T

4 papers

NM_152268.4

p.R202G

c.604C>G

4 papers

NM_152268.4

p.K378*

c.1132A>T