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.F7insFs

c.19dupT

Surrounding Variants

1 paper

NM_004562.3

p.F7F

c.21C>T

1 paper

NM_004562.3

p.F7L

c.21C>G

1 paper

NM_004562.3

p.F7_N8insFs

c.21_22insTT

1 paper

NM_004562.3

p.F7_N8insFs

c.21_22ins7

2 papers

NM_004562.3

p.F7L

c.21C>A

5 papers

NM_004562.3

p.F7S

c.20T>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.N8_S9insA

c.22_26ins3

1 paper

NM_004562.3

p.F4_F7del4

c.10_20del12

1 paper

NM_004562.3

p.R6_F7insFs

c.18_19insG

1 paper

NM_004562.3

p.F7L

c.19T>C