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

86 papers

NM_004562.3

p.R256C

c.766C>T

Surrounding Variants

3 papers

NM_004562.3

p.R256H

c.767G>A

1 paper

NM_004562.3

p.S255S

c.765C>A

1 paper

NM_004562.3

p.R256R

c.768C>T

1 paper

NM_004562.3

p.R256R

c.768C>A

2 papers

NM_004562.3

p.N254K

c.762C>A

4 papers

NM_004562.3

p.H257R

c.770A>G

1 paper

NM_004562.3

p.H257Q

c.771C>A

6 papers

NM_004562.3

p.N254S

c.761A>G

1 paper

NM_004562.3

p.V258L

c.772G>C

7 papers

NM_004562.3

p.V258M

c.772G>A

1 paper

NM_004562.3

p.C253C

c.759C>T

7 papers

NM_004562.3

p.C253W

c.759C>G