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.L41F

c.123G>C

Surrounding Variants

2 papers

NM_004562.3

p.L41F

c.123G>T

1 paper

NM_004562.3

p.R33_L41del0

c.98_121del24

15 papers

NM_004562.3

p.R42C

c.124C>T

2 papers

NM_004562.3

p.R42S

c.124C>A

2 papers

NM_004562.3

p.L41V

c.121T>G

1 paper

NM_004562.3

p.L41M

c.121T>A

1 paper

NM_004562.3

p.R42L

c.125G>T

169 papers

NM_004562.3

p.R42P

c.125G>C

11 papers

NM_004562.3

p.R42H

c.125G>A

1 paper

NM_004562.3

p.A38_R42delFs

c.112_124del13

1 paper

NM_004562.3

p.Q40H

c.120G>T

1 paper

NM_004562.3

p.Q40_L41insFs

c.120_121insA