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.D60V

c.179A>T

Surrounding Variants

1 paper

NM_004562.3

p.D60G

c.179A>G

2 papers

NM_004562.3

p.D60Y

c.178G>T

1 paper

NM_004562.3

p.D60N

c.178G>A

3 papers

NM_004562.3

p.D60E

c.180C>G

3 papers

NM_004562.3

p.D60E

c.180C>A

2 papers

NM_004562.3

p.L61L

c.181C>T

2 papers

NM_004562.3

p.L61V

c.181C>G

1 paper

NM_004562.3

p.L61M

c.181C>A

1 paper

NM_004562.3

p.L61R

c.182T>G

1 paper

NM_004562.3

p.L61Q

c.182T>A

1 paper

NM_004562.3

p.L61delFs

c.181delG

2 papers

NM_004562.3

p.C59F

c.176G>T