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.V67A

c.200T>C

Surrounding Variants

1 paper

NM_004562.3

p.V67F

c.199G>T

3 papers

NM_004562.3

p.V67I

c.199G>A

1 paper

NM_004562.3

p.I66M

c.198T>G

2 papers

NM_004562.3

p.I66I

c.198T>A

1 paper

NM_004562.3

p.H68Y

c.202C>T

1 paper

NM_004562.3

p.V67delFs

c.201delA

1 paper

NM_004562.3

p.H68fs

c.202_203fs

1 paper

NM_004562.3

p.I66S

c.197T>G

1 paper

NM_004562.3

p.I66T

c.197T>C

1 paper

NM_004562.3

p.I66N

c.197T>A

1 paper

NM_004562.3

p.I66F

c.196A>T

1 paper

NM_004562.3

p.S65_I66insFs

c.195_196insT