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

1 paper

NM_152268.4

p.C17S

c.49T>A

Surrounding Variants

1 paper

NM_152268.4

p.C17S

c.50G>C

4 papers

NM_152268.4

p.R28S

c.84G>T

4 papers

NM_152268.4

p.R28S

c.84G>C

1 paper

NM_152268.4

p.L4L

c.12G>C

1 paper

NM_152268.4

p.L4L

c.12G>A

1 paper

NM_152268.4

p.H31R

c.92A>G

1 paper

NM_152268.4

p.M1R

c.2T>G

1 paper

NM_152268.4

p.M1V

c.1A>G

1 paper

NM_152268.4

p.M1L

c.1A>C

1 paper

NM_152268.4

p.R38W

c.112C>T

1 paper

NM_152268.4

p.R52W

c.154C>T

1 paper

NM_152268.4

p.R52L

c.155G>T