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.Y285C

c.854A>G

Surrounding Variants

1 paper

NM_004562.3

p.S286A

c.856T>G

2 papers

NM_004562.3

p.G284G

c.852C>T

2 papers

NM_004562.3

p.S286fs

c.856_857fs

1 paper

NM_004562.3

p.G284V

c.851G>T

1 paper

NM_004562.3

p.G284A

c.851G>C

1 paper

NM_004562.3

p.S286F

c.857C>T

3 papers

NM_004562.3

p.S286delFs

c.856delA

1 paper

NM_004562.3

p.G284insFs

c.850_851insA

58 papers

NM_004562.3

p.G284R

c.850G>C

3 papers

NM_004562.3

p.G284S

c.850G>A

1 paper

NM_004562.3

p.S286fs

c.856_857fs

1 paper

NM_004562.3

p.L283R

c.848T>G