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.E28A

c.83A>C

Surrounding Variants

1 paper

NM_004562.3

p.E28V

c.83A>T

3 papers

NM_004562.3

p.E28G

c.83A>G

1 paper

NM_004562.3

p.E28D

c.84G>T

1 paper

NM_004562.3

p.E28D

c.84G>C

12 papers

NM_004562.3

p.E28K

c.82G>A

3 papers

NM_004562.3

p.K27del1

c.79_80delCTT

18 papers

NM_004562.3

p.K27N

c.81G>T

1 paper

NM_004562.3

p.E28_V29insFs

c.84_85insGC

13 papers

NM_004562.3

p.K27N

c.81G>C

2 papers

NM_004562.3

p.V29L

c.85G>C

2 papers

NM_004562.3

p.V29M

c.85G>A

7 papers

NM_004562.3

p.E28insFs

c.84dupG