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.P180R

c.539C>G

Surrounding Variants

1 paper

NM_004562.3

p.P180insFs

c.539_540insT

1 paper

NM_004562.3

p.P180Q

c.539C>A

2 papers

NM_004562.3

p.P180S

c.538C>T

1 paper

NM_004562.3

p.P180A

c.538C>G

3 papers

NM_004562.3

p.G179fs

c.535_536fs

6 papers

NM_004562.3

p.G179delFs

c.536delC

1 paper

NM_004562.3

p.G179V

c.536G>T

2 papers

NM_004562.3

p.G179fs

c.535_536fs

1 paper

NM_004562.3

p.G179R

c.535G>C

5 papers

NM_004562.3

p.G179S

c.535G>A

1 paper

NM_004562.3

p.C182S

c.544T>A

1 paper

NM_004562.3

p.C182F

c.545G>T