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.H303Y

c.907C>T

Surrounding Variants

2 papers

NM_004562.3

p.H302delFs

c.904_905delTG

1 paper

NM_004562.3

p.H303R

c.908A>G

1 paper

NM_004562.3

p.H303ins1

c.908_909insAAT

1 paper

NM_004562.3

p.H303del1

c.907_909delGTG

1 paper

NM_004562.3

p.H302Y

c.904C>T

1 paper

NM_004562.3

p.F304S

c.911T>C

2 papers

NM_004562.3

p.L301L

c.903C>T

1 paper

NM_004562.3

p.L301F

c.901C>T

1 paper

NM_004562.3

p.R305G

c.913A>G

2 papers

NM_004562.3

p.R305S

c.915G>T

1 paper

NM_004562.3

p.R305S

c.915G>C

1 paper

NM_004562.3

p.E300G

c.899A>G