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.C169Y

c.506G>A

Surrounding Variants

1 paper

NM_004562.3

p.C169S

c.506G>C

1 paper

NM_004562.3

p.C169R

c.505T>C

1 paper

NM_004562.3

p.C169S

c.505T>A

1 paper

NM_004562.3

p.R170W

c.508A>T

1 paper

NM_004562.3

p.R170M

c.509G>T

1 paper

NM_004562.3

p.T168I

c.503C>T

1 paper

NM_004562.3

p.S167del1

c.499_501delGCT

1 paper

NM_004562.3

p.T168A

c.502A>G

12 papers

NM_004562.3

p.Q171*

c.511C>T

1 paper

NM_004562.3

p.S167S

c.501C>T

1 paper

NM_004562.3

p.S167I

c.500G>T

1 paper

NM_004562.3

p.S167insFs

c.499dupA