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

3 papers

NM_004562.3

p.Q63*

c.187C>T

Surrounding Variants

2 papers

NM_004562.3

p.Q63E

c.187C>G

4 papers

NM_004562.3

p.Q63K

c.187C>A

2 papers

NM_004562.3

p.D62insFs

c.185_186insA

1 paper

NM_004562.3

p.Q63L

c.188A>T

1 paper

NM_004562.3

p.Q63R

c.188A>G

1 paper

NM_004562.3

p.Q63H

c.189G>T

1 paper

NM_004562.3

p.Q63H

c.189G>C

2 papers

NM_004562.3

p.Q63Q

c.189G>A

1 paper

NM_004562.3

p.D62Y

c.184G>T

1 paper

NM_004562.3

p.D62H

c.184G>C

1 paper

NM_004562.3

p.D62N

c.184G>A

3 papers

NM_004562.3

p.Q64*

c.190C>T