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.S296F

c.887C>T

Surrounding Variants

1 paper

NM_004562.3

p.S296A

c.886T>G

1 paper

NM_004562.3

p.L297*

c.890T>A

4 papers

NM_004562.3

p.N295S

c.884A>G

1 paper

NM_004562.3

p.L297_I298insFs

c.891_892insTT

1 paper

NM_004562.3

p.L297L

c.891G>A

1 paper

NM_004562.3

p.N295fs

c.883_884fs

1 paper

NM_004562.3

p.P294delFs

c.881_882delGG

3 papers

NM_004562.3

p.I298L

c.892A>C

6 papers

NM_004562.3

p.I298S

c.893T>G

1 paper

NM_004562.3

p.I298delFs

c.892delT

1 paper

NM_004562.3

p.P294L

c.881C>T

5 papers

NM_004562.3

p.P294S

c.880C>T