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.L266F

c.798A>T

Surrounding Variants

1 paper

NM_004562.3

p.L266L

c.798A>G

1 paper

NM_004562.3

p.L266F

c.798A>C

2 papers

NM_004562.3

p.L266_Y267insFs

c.798_799insA

13 papers

NM_004562.3

p.Y267H

c.799T>C

2 papers

NM_004562.3

p.L266V

c.796T>G

1 paper

NM_004562.3

p.Y267C

c.800A>G

1 paper

NM_004562.3

p.Y267*

c.801C>G

1 paper

NM_004562.3

p.Y267insFs

c.800dupA

1 paper

NM_004562.3

p.Y267*

c.801C>A

3 papers

NM_004562.3

p.C268R

c.802T>C

6 papers

NM_004562.3

p.H265R

c.794A>G

1 paper

NM_004562.3

p.C268insFs

c.802_803insT