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.S9T

c.25T>A

Surrounding Variants

3 papers

NM_004562.3

p.S9F

c.26C>T

2 papers

NM_004562.3

p.N8N

c.24C>T

1 paper

NM_004562.3

p.S9Y

c.26C>A

2 papers

NM_004562.3

p.S9S

c.27C>A

3 papers

NM_004562.3

p.N8I

c.23A>T

3 papers

NM_004562.3

p.N8S

c.23A>G

1 paper

NM_004562.3

p.N8T

c.23A>C

1 paper

NM_004562.3

p.N8Y

c.22A>T

1 paper

NM_004562.3

p.N8D

c.22A>G

1 paper

NM_004562.3

p.S9insFs

c.27dupC

1 paper

NM_004562.3

p.N8_S9insA

c.22_26ins3

1 paper

NM_004562.3

p.F4_F7del4

c.10_20del12