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

7 papers

NM_004562.3

p.V36I

c.106G>A

Surrounding Variants

2 papers

NM_004562.3

p.V36L

c.106G>C

2 papers

NM_004562.3

p.Q34Fs

c.101delinsAGFs

1 paper

NM_004562.3

p.Q34delFs

c.102delC

1 paper

NM_004562.3

p.G35fs

c.103_104fs

1 paper

NM_004562.3

p.V36_P37insFs

c.108_109insGC

3 papers

NM_004562.3

p.G35A

c.104G>C

2 papers

NM_004562.3

p.G35E

c.104G>A

24 papers

NM_004562.3

p.Q34delFs

c.101_102delCT

2 papers

NM_004562.3

p.P37S

c.109C>T

3 papers

NM_004562.3

p.P37A

c.109C>G

1 paper

NM_004562.3

p.P37T

c.109C>A

1 paper

NM_004562.3

p.Q34H

c.102G>T