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

3 papers

NM_004562.3

p.L26P

c.77T>C

Surrounding Variants

1 paper

NM_004562.3

p.L26V

c.76C>G

1 paper

NM_004562.3

p.L26L

c.78C>A

1 paper

NM_004562.3

p.L26I

c.76C>A

1 paper

NM_004562.3

p.F24_Q25delFs

c.71_75del5

1 paper

NM_004562.3

p.Q25H

c.75G>T

1 paper

NM_004562.3

p.Q25_L26insFs

c.75_76insA

2 papers

NM_004562.3

p.Q25Q

c.75G>A

2 papers

NM_004562.3

p.K27*

c.79A>T

1 paper

NM_004562.3

p.K27Q

c.79A>C

4 papers

NM_004562.3

p.K27M

c.80A>T

10 papers

NM_004562.3

p.K27R

c.80A>G

1 paper

NM_004562.3

p.Q25R

c.74A>G