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.L307L

c.919C>T

Surrounding Variants

1 paper

NM_004562.3

p.L307fs

c.919_920fs

1 paper

NM_004562.3

p.I306T

c.917T>C

1 paper

NM_004562.3

p.L307L

c.921G>A

1 paper

NM_004562.3

p.L307delFs

c.920delA

1 paper

NM_004562.3

p.G308R

c.922G>C

1 paper

NM_004562.3

p.G308R

c.922G>A

1 paper

NM_004562.3

p.I306V

c.916A>G

1 paper

NM_004562.3

p.E300_R305del6

c.898_914del18

2 papers

NM_004562.3

p.R305S

c.915G>T

1 paper

NM_004562.3

p.R305S

c.915G>C

1 paper

NM_004562.3

p.G308E

c.923G>A

5 papers

NM_004562.3

p.E309*

c.925G>T