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.P288A

c.862C>G

Surrounding Variants

2 papers

NM_004562.3

p.P288S

c.862C>T

1 paper

NM_004562.3

p.L287L

c.861G>C

1 paper

NM_004562.3

p.L287L

c.861G>A

4 papers

NM_004562.3

p.P288L

c.863C>T

1 paper

NM_004562.3

p.P288H

c.863C>A

1 paper

NM_004562.3

p.P288delFs

c.862_863delGG

73 papers

NM_004562.3

p.C289G

c.865T>G

1 paper

NM_004562.3

p.L287_P288delFs

c.861_864del4

1 paper

NM_004562.3

p.C289delFs

c.865delA

1 paper

NM_004562.3

p.S286fs

c.856_857fs

1 paper

NM_004562.3

p.S286F

c.857C>T

3 papers

NM_004562.3

p.S286delFs

c.856delA