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

2 papers

NM_004562.3

p.R51K

c.152G>A

Surrounding Variants

1 paper

NM_004562.3

p.R51S

c.153G>T

1 paper

NM_004562.3

p.R51S

c.153G>C

1 paper

NM_004562.3

p.R51R

c.153G>A

23 papers

NM_004562.3

p.N52fs

c.154_155fs

1 paper

NM_004562.3

p.L50L

c.150G>A

2 papers

NM_004562.3

p.N52D

c.154A>G

1 paper

NM_004562.3

p.L50R

c.149T>G

1 paper

NM_004562.3

p.N52I

c.155A>T

4 papers

NM_004562.3

p.N52S

c.155A>G

1 paper

NM_004562.3

p.N52T

c.155A>C

18 papers

NM_004562.3

p.N52fs

c.154_155fs

1 paper

NM_004562.3

p.N52_D53insFs

c.156_157insA