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.C150G

c.448T>G

Surrounding Variants

1 paper

NM_004562.3

p.Y149insFs

c.446dupA

1 paper

NM_004562.3

p.Y149*

c.447T>G

2 papers

NM_004562.3

p.Y149*

c.447T>A

1 paper

NM_004562.3

p.C150F

c.449G>T

2 papers

NM_004562.3

p.C150Y

c.449G>A

1 paper

NM_004562.3

p.C150*

c.450C>A

1 paper

NM_004562.3

p.Y149F

c.446A>T

1 paper

NM_004562.3

p.Y149C

c.446A>G

1 paper

NM_004562.3

p.Y149delFs

c.445delA

2 papers

NM_004562.3

p.K151E

c.451A>G

1 paper

NM_004562.3

p.K151Q

c.451A>C

3 papers

NM_004562.3

p.K151R

c.452A>G