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.P159S

c.475C>T

Surrounding Variants

1 paper

NM_004562.3

p.P159T

c.475C>A

3 papers

NM_004562.3

p.P159L

c.476C>T

1 paper

NM_004562.3

p.P159insFs

c.475_476insC

1 paper

NM_004562.3

p.P159fs

c.475_476fs

1 paper

NM_004562.3

p.P159_G160insFs

c.477_478insCA

1 paper

NM_004562.3

p.P159P

c.477G>A

2 papers

NM_004562.3

p.Q158E

c.472C>G

1 paper

NM_004562.3

p.G160V

c.479G>T

1 paper

NM_004562.3

p.V157V

c.471G>C

2 papers

NM_004562.3

p.V157G

c.470T>G

1 paper

NM_004562.3

p.V157A

c.470T>C

1 paper

NM_004562.3

p.V157E

c.470T>A