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.E444insFs

c.1332dupG

Surrounding Variants

1 paper

NM_004562.3

p.E444delFs

c.1331_1332delCT

1 paper

NM_004562.3

p.E444D

c.1332G>T

1 paper

NM_004562.3

p.E444D

c.1332G>C

12 papers

NM_004562.3

p.W445*

c.1334G>A

12 papers

NM_004562.3

p.W445*

c.1335G>A

5 papers

NM_004562.3

p.E444A

c.1331A>C

2 papers

NM_004562.3

p.C446S

c.1336T>A

2 papers

NM_004562.3

p.E444*

c.1330G>T

12 papers

NM_004562.3

p.E444Q

c.1330G>C

1 paper

NM_004562.3

p.E444K

c.1330G>A

3 papers

NM_004562.3

p.C446F

c.1337G>T

2 papers

NM_004562.3

p.C446S

c.1337G>C