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.E140K

c.418G>A

Surrounding Variants

1 paper

NM_152268.4

p.D146Y

c.436G>T

1 paper

NM_152268.4

p.D146N

c.436G>A

2 papers

NM_152268.4

p.P156R

c.467C>G

1 paper

NM_152268.4

p.E159K

c.475G>A

1 paper

NM_152268.4

p.M119T

c.356T>C

1 paper

NM_152268.4

p.G114fs

c.340_341fs

3 papers

NM_152268.4

p.G114S

c.340G>A

1 paper

NM_152268.4

p.I112I

c.336C>T

1 paper

NM_152268.4

p.E108E

c.324G>A

4 papers

NM_152268.4

p.R103*

c.307C>T

1 paper

NM_152268.4

p.E99G

c.296A>G

18 papers

NM_152268.4

p.V95I

c.283G>A