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.Q311_Y312Splc

c.934-1G>C

Surrounding Variants

3 papers

NM_004562.3

p.Q311_Y312Splc

c.934-1G>A

3 papers

NM_004562.3

p.Q311_Y312Splc

c.934-3C>T

8 papers

NM_004562.3

p.Y312Y

c.936C>T

1 paper

NM_004562.3

p.N313N

c.939C>T

1 paper

NM_004562.3

p.N313delFs

c.937delT

1 paper

NM_004562.3

p.R314W

c.940C>T

1 paper

NM_004562.3

p.R314G

c.940C>G

1 paper

NM_004562.3

p.R314Q

c.941G>A

3 papers

NM_004562.3

p.Q316*

c.946C>T

1 paper

NM_004562.3

p.Y315_Q316delFs

c.945_946delGG

3 papers

NM_004562.3

p.Q317*

c.949C>T

1 paper

NM_004562.3

p.Q311_Y312Splc

c.934-17C>T