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.C323_L325del3

c.967_974del9

Surrounding Variants

5 papers

NM_004562.3

p.C323_L325del0

c.968_973del6

1 paper

NM_004562.3

p.M327_G328insCT

c.979_983ins6

1 paper

NM_004562.3

p.M327T

c.980T>C

3 papers

NM_004562.3

p.V324fs

c.970_971fs

6 papers

NM_004562.3

p.V324delFs

c.971delA

6 papers

NM_004562.3

p.V324A

c.971T>C

1 paper

NM_004562.3

p.M327I

c.981G>T

1 paper

NM_004562.3

p.M327I

c.981G>C

1 paper

NM_004562.3

p.M327I

c.981G>A

1 paper

NM_004562.3

p.V324_L325insGGT

c.970_974ins9

1 paper

NM_004562.3

p.V324I

c.970G>A

5 papers

NM_004562.3

p.V324fs

c.970_971fs