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.S108delFs

c.324delG

Surrounding Variants

1 paper

NM_004562.3

p.S109fs

c.325_326fs

1 paper

NM_004562.3

p.S109G

c.325A>G

1 paper

NM_004562.3

p.S109R

c.325A>C

1 paper

NM_004562.3

p.S108S

c.324C>T

1 paper

NM_004562.3

p.S108R

c.324C>G

1 paper

NM_004562.3

p.S108R

c.324C>A

1 paper

NM_004562.3

p.C95_S108delFs

c.283_323del41

2 papers

NM_004562.3

p.S108I

c.323G>T

1 paper

NM_004562.3

p.S108T

c.323G>C

3 papers

NM_004562.3

p.S108N

c.323G>A

1 paper

NM_004562.3

p.S109S

c.327C>T

1 paper

NM_004562.3

p.S109R

c.327C>G