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

41 papers

NM_004562.3

p.N52delFs

c.155delT

Surrounding Variants

18 papers

NM_004562.3

p.N52fs

c.154_155fs

1 paper

NM_004562.3

p.N52_D53insFs

c.156_157insA

1 paper

NM_004562.3

p.N52K

c.156T>G

1 paper

NM_004562.3

p.N52K

c.156T>A

1 paper

NM_004562.3

p.D53Y

c.157G>T

5 papers

NM_004562.3

p.N52_D53insFs

c.156_157insT

1 paper

NM_004562.3

p.D53H

c.157G>C

2 papers

NM_004562.3

p.D53N

c.157G>A

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

23 papers

NM_004562.3

p.N52fs

c.154_155fs