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.L112V

c.334C>G

Surrounding Variants

1 paper

NM_004562.3

p.L112F

c.334C>T

1 paper

NM_004562.3

p.V111V

c.333C>T

4 papers

NM_004562.3

p.V111V

c.333C>G

1 paper

NM_004562.3

p.V111V

c.333C>A

1 paper

NM_004562.3

p.V111D

c.332T>A

1 paper

NM_004562.3

p.L112L

c.336C>T

1 paper

NM_004562.3

p.L112L

c.336C>G

1 paper

NM_004562.3

p.L112fs

c.334_335fs

2 papers

NM_004562.3

p.L112L

c.336C>A

1 paper

NM_004562.3

p.V111F

c.331G>T

3 papers

NM_004562.3

p.V111I

c.331G>A

2 papers

NM_004562.3

p.P113S

c.337C>T