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

4 papers

NM_004562.3

p.H279P

c.836A>C

Surrounding Variants

2 papers

NM_004562.3

p.H279H

c.837C>T

2 papers

NM_004562.3

p.H279Y

c.835C>T

1 paper

NM_004562.3

p.H279D

c.835C>G

38 papers

NM_004562.3

p.D280N

c.838G>A

1 paper

NM_004562.3

p.V278A

c.833T>C

1 paper

NM_004562.3

p.D280V

c.839A>T

1 paper

NM_004562.3

p.D280G

c.839A>G

1 paper

NM_004562.3

p.V278I

c.832G>A

1 paper

NM_004562.3

p.D280E

c.840C>G

1 paper

NM_004562.3

p.D280_P281insFs

c.840_841insA

1 paper

NM_004562.3

p.D280E

c.840C>A

1 paper

NM_004562.3

p.P281S

c.841C>T