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.N90T

c.269A>C

Surrounding Variants

2 papers

NM_004562.3

p.N90I

c.269A>T

4 papers

NM_004562.3

p.N90S

c.269A>G

2 papers

NM_004562.3

p.N90N

c.270C>T

2 papers

NM_004562.3

p.N90K

c.270C>G

2 papers

NM_004562.3

p.N90K

c.270C>A

2 papers

NM_004562.3

p.N90Y

c.268A>T

2 papers

NM_004562.3

p.N90D

c.268A>G

2 papers

NM_004562.3

p.N90H

c.268A>C

2 papers

NM_004562.3

p.A91T

c.271G>A

1 paper

NM_004562.3

p.R89I

c.266G>T

1 paper

NM_004562.3

p.R89K

c.266G>A

4 papers

NM_004562.3

p.A91V

c.272C>T