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

4 papers

NM_004562.3

p.Q317H

c.951G>C

Surrounding Variants

1 paper

NM_004562.3

p.Q317R

c.950A>G

3 papers

NM_004562.3

p.Q317*

c.949C>T

1 paper

NM_004562.3

p.Y318F

c.953A>T

1 paper

NM_004562.3

p.Y318insFs

c.953dupA

1 paper

NM_004562.3

p.Y318*

c.954T>G

1 paper

NM_004562.3

p.Y318*

c.954T>A

1 paper

NM_004562.3

p.Y315_Q316delFs

c.945_946delGG

2 papers

NM_004562.3

p.G319A

c.956G>C

3 papers

NM_004562.3

p.Q316*

c.946C>T

4 papers

NM_004562.3

p.G319G

c.957T>C

1 paper

NM_004562.3

p.E321_E322insGT

c.961_965ins6

1 paper

NM_004562.3

p.R314Q

c.941G>A