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.S136R

c.408T>A

Surrounding Variants

2 papers

NM_004562.3

p.S136R

c.408T>G

1 paper

NM_004562.3

p.P137A

c.409C>G

1 paper

NM_004562.3

p.P137R

c.410C>G

1 paper

NM_004562.3

p.S136C

c.406A>T

1 paper

NM_004562.3

p.S136R

c.406A>C

1 paper

NM_004562.3

p.S136insFs

c.406_407insT

1 paper

NM_004562.3

p.G135G

c.405A>C

1 paper

NM_004562.3

p.A138S

c.412G>T

2 papers

NM_004562.3

p.A138Splc

c.412+1G>T

1 paper

NM_004562.3

p.G135_S136insGC

c.403_407ins6

5 papers

NM_004562.3

p.G135R

c.403G>C

1 paper

NM_004562.3

p.A138Splc

c.412+1G>C