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

5 papers

NM_004562.3

p.V5V

c.15C>A

Surrounding Variants

1 paper

NM_004562.3

p.V5_R6insFs

c.15_16insA

1 paper

NM_004562.3

p.V5delFs

c.14delA

1 paper

NM_004562.3

p.V5G

c.14T>G

1 paper

NM_004562.3

p.V5A

c.14T>C

1 paper

NM_004562.3

p.V5D

c.14T>A

1 paper

NM_004562.3

p.R6W

c.16A>T

1 paper

NM_004562.3

p.R6insFs

c.16_17insG

8 papers

NM_004562.3

p.F4insFs

c.11dupT

5 papers

NM_004562.3

p.V5L

c.13G>C

4 papers

NM_004562.3

p.V5I

c.13G>A

5 papers

NM_004562.3

p.F4delFs

c.12delA

3 papers

NM_004562.3

p.F4L

c.12T>A