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.P37P

c.111G>C

Surrounding Variants

1 paper

NM_004562.3

p.P37P

c.111G>T

8 papers

NM_004562.3

p.P37P

c.111G>A

29 papers

NM_004562.3

p.P37L

c.110C>T

2 papers

NM_004562.3

p.P37S

c.109C>T

3 papers

NM_004562.3

p.P37A

c.109C>G

1 paper

NM_004562.3

p.A38G

c.113C>G

1 paper

NM_004562.3

p.A38D

c.113C>A

1 paper

NM_004562.3

p.P37T

c.109C>A

1 paper

NM_004562.3

p.V36_P37insFs

c.108_109insGC

2 papers

NM_004562.3

p.A38A

c.114T>A

2 papers

NM_004562.3

p.Q34Fs

c.101delinsAGFs

1 paper

NM_004562.3

p.Q34delFs

c.102delC