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.S110S

c.330A>G

Surrounding Variants

1 paper

NM_004562.3

p.S109_S110insFs

c.327_328insCT

1 paper

NM_004562.3

p.S110insFs

c.329_330ins7

1 paper

NM_004562.3

p.V111F

c.331G>T

3 papers

NM_004562.3

p.V111I

c.331G>A

1 paper

NM_004562.3

p.S110P

c.328T>C

1 paper

NM_004562.3

p.V111D

c.332T>A

1 paper

NM_004562.3

p.S108_S109del1

c.323_325delTGC

1 paper

NM_004562.3

p.V111V

c.333C>T

1 paper

NM_004562.3

p.S109S

c.327C>T

4 papers

NM_004562.3

p.V111V

c.333C>G

1 paper

NM_004562.3

p.S109R

c.327C>G

1 paper

NM_004562.3

p.V111V

c.333C>A