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.C166G

c.496T>G

Surrounding Variants

1 paper

NM_004562.3

p.C166R

c.496T>C

1 paper

NM_004562.3

p.C166fs

c.496_497fs

1 paper

NM_004562.3

p.C166F

c.497G>T

5 papers

NM_004562.3

p.C166Y

c.497G>A

3 papers

NM_004562.3

p.Q165P

c.494A>C

4 papers

NM_004562.3

p.Q165*

c.493C>T

2 papers

NM_004562.3

p.S167C

c.499A>T

1 paper

NM_004562.3

p.S167G

c.499A>G

1 paper

NM_004562.3

p.S167I

c.500G>T

1 paper

NM_004562.3

p.S167insFs

c.499dupA

2 papers

NM_004562.3

p.S167T

c.500G>C

105 papers

NM_004562.3

p.S167N

c.500G>A