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.K151K

c.453A>G

Surrounding Variants

1 paper

NM_004562.3

p.K151N

c.453A>T

1 paper

NM_004562.3

p.G152R

c.454G>C

3 papers

NM_004562.3

p.K151R

c.452A>G

1 paper

NM_004562.3

p.G152V

c.455G>T

1 paper

NM_004562.3

p.G152A

c.455G>C

2 papers

NM_004562.3

p.K151E

c.451A>G

1 paper

NM_004562.3

p.K151Q

c.451A>C

1 paper

NM_004562.3

p.C150*

c.450C>A

1 paper

NM_004562.3

p.C150F

c.449G>T

2 papers

NM_004562.3

p.C150Y

c.449G>A

3 papers

NM_004562.3

p.P153S

c.457C>T

1 paper

NM_004562.3

p.P153A

c.457C>G