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

61 papers

NM_004562.3

p.R402C

c.1204C>T

Surrounding Variants

1 paper

NM_004562.3

p.A401insFs

c.1203dupT

13 papers

NM_004562.3

p.R402H

c.1205G>A

1 paper

NM_004562.3

p.V393_A401insFs

c.1179_1203dup25

3 papers

NM_004562.3

p.R402R

c.1206T>C

1 paper

NM_004562.3

p.A401G

c.1202C>G

7 papers

NM_004562.3

p.A401D

c.1202C>A

1 paper

NM_004562.3

p.A401T

c.1201G>A

1 paper

NM_004562.3

p.W403S

c.1208G>C

1 paper

NM_004562.3

p.W403*

c.1208G>A

1 paper

NM_004562.3

p.W403C

c.1209G>T

1 paper

NM_004562.3

p.E399D

c.1197G>T

1 paper

NM_004562.3

p.E399D

c.1197G>C