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.V29delFs

c.85delC

Surrounding Variants

7 papers

NM_004562.3

p.E28insFs

c.84dupG

1 paper

NM_004562.3

p.V29A

c.86T>C

1 paper

NM_004562.3

p.E28_V29insFs

c.84_85insGC

2 papers

NM_004562.3

p.V29L

c.85G>C

1 paper

NM_004562.3

p.V29V

c.87G>C

2 papers

NM_004562.3

p.V29M

c.85G>A

1 paper

NM_004562.3

p.V29V

c.87G>A

1 paper

NM_004562.3

p.E28D

c.84G>T

4 papers

NM_004562.3

p.V30L

c.88G>C

1 paper

NM_004562.3

p.E28D

c.84G>C

3 papers

NM_004562.3

p.V30I

c.88G>A

1 paper

NM_004562.3

p.V30insFs

c.89_90ins8