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.P417A

c.1249C>G

Surrounding Variants

1 paper

NM_004562.3

p.P417H

c.1250C>A

3 papers

NM_004562.3

p.K416R

c.1247A>G

4 papers

NM_004562.3

p.C418G

c.1252T>G

35 papers

NM_004562.3

p.C418R

c.1252T>C

2 papers

NM_004562.3

p.C418C

c.1254T>C

109 papers

NM_004562.3

p.T415N

c.1244C>A

1 paper

NM_004562.3

p.P419T

c.1255C>A

1 paper

NM_004562.3

p.P419L

c.1256C>T

1 paper

NM_004562.3

p.T414delFs

c.1240delT

1 paper

NM_004562.3

p.R420C

c.1258C>T

1 paper

NM_004562.3

p.R420G

c.1258C>G

1 paper

NM_004562.3

p.T414fs

c.1240_1241fs