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.D86A

c.257A>C

Surrounding Variants

1 paper

NM_004562.3

p.D86Y

c.256G>T

5 papers

NM_004562.3

p.D86N

c.256G>A

1 paper

NM_004562.3

p.D86D

c.258C>T

2 papers

NM_004562.3

p.D86E

c.258C>G

5 papers

NM_004562.3

p.D86E

c.258C>A

1 paper

NM_004562.3

p.D87Y

c.259G>T

1 paper

NM_004562.3

p.D87H

c.259G>C

1 paper

NM_004562.3

p.D87N

c.259G>A

1 paper

NM_004562.3

p.D87fs

c.259_260fs

1 paper

NM_004562.3

p.G85A

c.254G>C

4 papers

NM_004562.3

p.G85D

c.254G>A

1 paper

NM_004562.3

p.D87A

c.260A>C