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.P88P

c.264C>T

Surrounding Variants

1 paper

NM_004562.3

p.P88L

c.263C>T

1 paper

NM_004562.3

p.P88R

c.263C>G

1 paper

NM_004562.3

p.R89*

c.265A>T

1 paper

NM_004562.3

p.R89_N90ins8

c.265_269ins24

1 paper

NM_004562.3

p.R89I

c.266G>T

1 paper

NM_004562.3

p.R89K

c.266G>A

1 paper

NM_004562.3

p.P88S

c.262C>T

1 paper

NM_004562.3

p.P88A

c.262C>G

1 paper

NM_004562.3

p.P88T

c.262C>A

1 paper

NM_004562.3

p.D87E

c.261C>G

1 paper

NM_004562.3

p.D87E

c.261C>A

2 papers

NM_004562.3

p.N90Y

c.268A>T