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

2 papers

NM_004562.3

p.C212fs

c.634_635fs

Surrounding Variants

10 papers

NM_004562.3

p.C212G

c.634T>G

1 paper

NM_004562.3

p.C212R

c.634T>C

72 papers

NM_004562.3

p.C212Y

c.635G>A

2 papers

NM_004562.3

p.C212delFs

c.634delA

99 papers

NM_004562.3

p.K211N

c.633A>T

95 papers

NM_004562.3

p.K211N

c.633A>C

1 paper

NM_004562.3

p.C212fs

c.634_635fs

1 paper

NM_004562.3

p.C212delFs

c.635delC

1 paper

NM_004562.3

p.K211I

c.632A>T

12 papers

NM_004562.3

p.K211R

c.632A>G

NM_013988.3

p.K62R

c.185A>G

1 paper

NM_004562.3

p.K211insFs

c.632_633insT

1 paper

NM_004562.3

p.C212delFs

c.636delA