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

3 papers

NM_004562.3

p.V3delFs

c.8delA

Surrounding Variants

3 papers

NM_004562.3

p.V3insFs

c.8dupT

1 paper

NM_004562.3

p.V3_F4ins1

c.9_10insCAC

1 paper

NM_004562.3

p.V3V

c.9G>A

2 papers

NM_004562.3

p.V3insFs

c.9dupG

1 paper

NM_004562.3

p.V3insFs

c.8_9insA

2 papers

NM_004562.3

p.V3E

c.8T>A

1 paper

NM_004562.3

p.V3fs

c.7_8fs

2 papers

NM_004562.3

p.F4Y

c.11T>A

3 papers

NM_004562.3

p.V3Splc

c.8-1G>A

3 papers

NM_004562.3

p.F4L

c.12T>A

1 paper

NM_004562.3

p.V3Splc

c.8-2A>G

8 papers

NM_004562.3

p.F4insFs

c.11dupT