Varaico: Literature-Extracted Genetic Variants

PRKN

4,125 papers

RefSeq Summary

The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasoma...

Pfam Domains

ubiquitinaa 3–73UCSCUbiquitin family

zf-RING_12aa 145–217UCSCRING/Ubox like zinc-binding domain

zf-RING_14aa 228–318UCSCRING/Ubox like zinc-binding domain

IBR_2aa 411–459UCSCIBR domain

Gene Aliases

HGNC Name

parkin RBR E3 ubiquitin protein ligase

HGNC Previous Symbol

PARK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004562.3

p.H124Y

c.370C>T

Surrounding Variants

3 papers

NM_004562.3

p.H124L

c.371A>T

1 paper

NM_004562.3

p.H124R

c.371A>G

1 paper

NM_004562.3

p.H124H

c.372C>T

1 paper

NM_004562.3

p.T125fs

c.373_374fs

1 paper

NM_004562.3

p.L123L

c.367C>T

1 paper

NM_004562.3

p.L123V

c.367C>G

1 paper

NM_004562.3

p.T125P

c.373A>C

1 paper

NM_004562.3

p.I122delFs

c.364_365delAT

2 papers

NM_004562.3

p.T125I

c.374C>T

3 papers

NM_004562.3

p.T125insFs

c.374dupC

1 paper

NM_004562.3

p.V121_I122insFs

c.363_364dupCA

1 paper

NM_004562.3

p.V121_I122delFs

c.363_364delTG