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.H11Y

c.31C>T

Surrounding Variants

1 paper

NM_004562.3

p.H11insFs

c.31_32insGG

2 papers

NM_004562.3

p.H11N

c.31C>A

1 paper

NM_004562.3

p.S10S

c.30C>T

1 paper

NM_004562.3

p.H11L

c.32A>T

1 paper

NM_004562.3

p.H11R

c.32A>G

1 paper

NM_004562.3

p.H11ins3

c.32_33ins9

1 paper

NM_004562.3

p.H11insFs

c.32dupA

1 paper

NM_004562.3

p.H11Q

c.33T>A

1 paper

NM_004562.3

p.S10I

c.29G>T

1 paper

NM_004562.3

p.S10T

c.29G>C

6 papers

NM_004562.3

p.S10N

c.29G>A

14 papers

NM_004562.3

p.G12C

c.34G>T