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.R72W

c.214C>T

Surrounding Variants

7 papers

NM_152268.4

p.I80T

c.239T>C

1 paper

NM_152268.4

p.K62R

c.185A>G

1 paper

NM_152268.4

p.P82Q

c.245C>A

1 paper

NM_152268.4

p.A83T

c.247G>A

1 paper

NM_152268.4

p.L59fs

c.175_176fs

1 paper

NM_152268.4

p.R52_S58insFs

c.155_174dup20

1 paper

NM_152268.4

p.G86D

c.257G>A

1 paper

NM_152268.4

p.R52L

c.155G>T

1 paper

NM_152268.4

p.R52W

c.154C>T

18 papers

NM_152268.4

p.V95I

c.283G>A

1 paper

NM_152268.4

p.E99G

c.296A>G

4 papers

NM_152268.4

p.R103*

c.307C>T