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

2 papers

NM_004562.3

p.G12G

c.36T>A

Surrounding Variants

1 paper

NM_004562.3

p.F13I

c.37T>A

19 papers

NM_004562.3

p.G12V

c.35G>T

7 papers

NM_004562.3

p.G12A

c.35G>C

30 papers

NM_004562.3

p.G12D

c.35G>A

1 paper

NM_004562.3

p.G12delins

c.34_35delinsTT

1 paper

NM_004562.3

p.F13C

c.38T>G

14 papers

NM_004562.3

p.G12C

c.34G>T

9 papers

NM_004562.3

p.G12R

c.34G>C

8 papers

NM_004562.3

p.G12S

c.34G>A

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.F13F

c.39C>T