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.T414N

c.1241C>A

Surrounding Variants

1 paper

NM_152268.4

p.F428S

c.1283T>C

1 paper

NM_152268.4

p.D395G

c.1184A>G

2 papers

NM_152268.4

p.D395H

c.1183G>C

1 paper

NM_152268.4

p.A385V

c.1154C>T

1 paper

NM_152268.4

p.E448G

c.1343A>G

4 papers

NM_152268.4

p.K378fs

c.1132_1133fs

4 papers

NM_152268.4

p.K378*

c.1132A>T

6 papers

NM_152268.4

p.P377insFs

c.1130dupC

1 paper

NM_152268.4

p.P377S

c.1129C>T

1 paper

NM_152268.4

p.Q452H

c.1356G>T

1 paper

NM_152268.4

p.Q452H

c.1356G>C

1 paper

NM_152268.4

p.E456*

c.1366G>T