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.P202delFs

c.606delA

Surrounding Variants

1 paper

NM_004562.3

p.P202insFs

c.606dupT

4 papers

NM_004562.3

p.G203R

c.607G>C

5 papers

NM_004562.3

p.G203R

c.607G>A

1 paper

NM_004562.3

p.G203E

c.608G>A

2 papers

NM_004562.3

p.P202L

c.605C>T

1 paper

NM_004562.3

p.T204S

c.610A>T

1 paper

NM_004562.3

p.T204S

c.611C>G

3 papers

NM_004562.3

p.C201*

c.603C>A

3 papers

NM_004562.3

p.C201Y

c.602G>A

3 papers

NM_004562.3

p.C201insFs

c.601_602insA

2 papers

NM_004562.3

p.C201fs

c.601_602fs

1 paper

NM_004562.3

p.T204delFs

c.612delA