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

6 papers

NM_004562.3

p.V324A

c.971T>C

Surrounding Variants

1 paper

NM_004562.3

p.V324_L325insGGT

c.970_974ins9

1 paper

NM_004562.3

p.V324I

c.970G>A

3 papers

NM_004562.3

p.V324fs

c.970_971fs

6 papers

NM_004562.3

p.V324delFs

c.971delA

5 papers

NM_004562.3

p.V324fs

c.970_971fs

2 papers

NM_004562.3

p.C323fs

c.967_968fs

5 papers

NM_004562.3

p.C323_L325del0

c.968_973del6

4 papers

NM_004562.3

p.C323S

c.968G>C

2 papers

NM_004562.3

p.C323Y

c.968G>A

4 papers

NM_004562.3

p.C323S

c.967T>A

1 paper

NM_004562.3

p.C323_L325del3

c.967_974del9

1 paper

NM_004562.3

p.E322*

c.964G>T