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.G359insFs

c.1076dupG

Surrounding Variants

2 papers

NM_004562.3

p.C360S

c.1078T>A

1 paper

NM_004562.3

p.G359insFs

c.1076_1077insT

1 paper

NM_004562.3

p.G359A

c.1076G>C

15 papers

NM_004562.3

p.G359D

c.1076G>A

2 papers

NM_004562.3

p.C360F

c.1079G>T

2 papers

NM_004562.3

p.C360S

c.1079G>C

1 paper

NM_004562.3

p.G359R

c.1075G>C

1 paper

NM_004562.3

p.C360Y

c.1079G>A

1 paper

NM_004562.3

p.G359S

c.1075G>A

1 paper

NM_004562.3

p.L358delFs

c.1072delG

1 paper

NM_004562.3

p.L358Fs

c.1072_1073delinsAFs

1 paper

NM_004562.3

p.G361R

c.1081G>A