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.D130E

c.390C>A

Surrounding Variants

1 paper

NM_004562.3

p.D130D

c.390C>T

1 paper

NM_004562.3

p.D130E

c.390C>G

7 papers

NM_004562.3

p.S131A

c.391T>G

1 paper

NM_004562.3

p.D130G

c.389A>G

2 papers

NM_004562.3

p.D130Y

c.388G>T

2 papers

NM_004562.3

p.D130H

c.388G>C

1 paper

NM_004562.3

p.D130N

c.388G>A

1 paper

NM_004562.3

p.S131*

c.392C>A

1 paper

NM_004562.3

p.K129N

c.387G>T

1 paper

NM_004562.3

p.K129N

c.387G>C

1 paper

NM_004562.3

p.P132S

c.394C>T

1 paper

NM_004562.3

p.S131insFs

c.393dupA