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.R163W

c.487A>T

Surrounding Variants

1 paper

NM_004562.3

p.R163G

c.487A>G

2 papers

NM_004562.3

p.R163K

c.488G>A

2 papers

NM_004562.3

p.L162L

c.486C>G

1 paper

NM_004562.3

p.L162L

c.486C>A

1 paper

NM_004562.3

p.P159_L162del0

c.477_485del9

1 paper

NM_004562.3

p.V157_L162insFs

c.469_484dup16

1 paper

NM_004562.3

p.L162H

c.485T>A

1 paper

NM_004562.3

p.K161_L162delFs

c.483_484delGT

1 paper

NM_004562.3

p.V164fs

c.490_491fs

1 paper

NM_004562.3

p.V164G

c.491T>G

1 paper

NM_004562.3

p.V164delFs

c.490delC

110 papers

NM_004562.3

p.K161N

c.483A>T