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.C263R

c.787T>C

Surrounding Variants

1 paper

NM_004562.3

p.C263G

c.787T>G

1 paper

NM_004562.3

p.C263S

c.787T>A

1 paper

NM_004562.3

p.C263F

c.788G>T

2 papers

NM_004562.3

p.D262V

c.785A>T

1 paper

NM_004562.3

p.D262A

c.785A>C

1 paper

NM_004562.3

p.F264L

c.790T>C

1 paper

NM_004562.3

p.D262N

c.784G>A

6 papers

NM_004562.3

p.L261L

c.783A>G

1 paper

NM_004562.3

p.F264L

c.792C>G

1 paper

NM_004562.3

p.F264L

c.792C>A

6 papers

NM_004562.3

p.H265R

c.794A>G

1 paper

NM_004562.3

p.C260F

c.779G>T