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.N428S

c.1283A>G

Surrounding Variants

1 paper

NM_004562.3

p.N428I

c.1283A>T

5 papers

NM_004562.3

p.N428fs

c.1282_1283fs

2 papers

NM_004562.3

p.N428insFs

c.1283_1284insA

5 papers

NM_004562.3

p.N428delFs

c.1283delT

4 papers

NM_004562.3

p.N428fs

c.1282_1283fs

1 paper

NM_004562.3

p.P424_K427del4

c.1270_1280del12

1 paper

NM_004562.3

p.K427K

c.1281A>G

2 papers

NM_004562.3

p.K427R

c.1280A>G

1 paper

NM_004562.3

p.G429Splc

c.1285+2T>C

2 papers

NM_004562.3

p.E426D

c.1278A>T

2 papers

NM_004562.3

p.E426D

c.1278A>C

1 paper

NM_004562.3

p.E426fs

c.1276_1277fs