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.R334R

c.1002C>T

Surrounding Variants

1 paper

NM_004562.3

p.R334L

c.1001G>T

9 papers

NM_004562.3

p.R334H

c.1001G>A

2 papers

NM_004562.3

p.P335S

c.1003C>T

1 paper

NM_004562.3

p.P335A

c.1003C>G

61 papers

NM_004562.3

p.R334C

c.1000C>T

1 paper

NM_004562.3

p.P335L

c.1004C>T

1 paper

NM_004562.3

p.P333P

c.999C>A

1 paper

NM_004562.3

p.G336C

c.1006G>T

1 paper

NM_004562.3

p.C332C

c.996C>T

2 papers

NM_004562.3

p.C332*

c.996C>A

1 paper

NM_004562.3

p.C337G

c.1009T>G

3 papers

NM_004562.3

p.C332S

c.995G>C