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.V157E

c.470T>A

Surrounding Variants

2 papers

NM_004562.3

p.V157G

c.470T>G

1 paper

NM_004562.3

p.V157A

c.470T>C

1 paper

NM_004562.3

p.R156_V157delFs

c.468_469delCT

1 paper

NM_004562.3

p.V157L

c.469G>T

1 paper

NM_004562.3

p.V157V

c.471G>C

2 papers

NM_004562.3

p.V157M

c.469G>A

2 papers

NM_004562.3

p.Q158E

c.472C>G

2 papers

NM_004562.3

p.R156insFs

c.467_468insT

1 paper

NM_004562.3

p.R156*

c.466A>T

1 paper

NM_004562.3

p.R156G

c.466A>G

5 papers

NM_004562.3

p.R156_V157insT

c.466_470ins3

2 papers

NM_004562.3

p.P159S

c.475C>T