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.V17V

c.51C>G

Surrounding Variants

1 paper

NM_004562.3

p.V17G

c.50T>G

1 paper

NM_004562.3

p.V17A

c.50T>C

1 paper

NM_004562.3

p.E16delFs

c.48delC

1 paper

NM_004562.3

p.G12_E16del5

c.34_47del15

1 paper

NM_004562.3

p.D18Y

c.52G>T

11 papers

NM_004562.3

p.D18N

c.52G>A

2 papers

NM_004562.3

p.V17L

c.49G>C

1 paper

NM_004562.3

p.V17I

c.49G>A

81 papers

NM_004562.3

p.D18V

c.53A>T

2 papers

NM_004562.3

p.D18G

c.53A>G

1 paper

NM_004562.3

p.D18A

c.53A>C

1 paper

NM_004562.3

p.D18delFs

c.52delC