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.D126fs

c.376_377fs

Surrounding Variants

2 papers

NM_004562.3

p.D126E

c.378C>G

2 papers

NM_004562.3

p.D126E

c.378C>A

2 papers

NM_004562.3

p.D126V

c.377A>T

2 papers

NM_004562.3

p.D126G

c.377A>G

3 papers

NM_004562.3

p.D126A

c.377A>C

16 papers

NM_004562.3

p.P113_D126delFs

c.337_376del40

1 paper

NM_004562.3

p.D126H

c.376G>C

1 paper

NM_004562.3

p.S127N

c.380G>A

3 papers

NM_004562.3

p.T125insFs

c.374dupC

1 paper

NM_004562.3

p.S127R

c.381C>G

2 papers

NM_004562.3

p.T125I

c.374C>T

3 papers

NM_004562.3

p.R128W

c.382A>T