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.Y391*

c.1173C>G

Surrounding Variants

1 paper

NM_004562.3

p.Y391*

c.1173C>A

1 paper

NM_004562.3

p.R392G

c.1174A>G

1 paper

NM_004562.3

p.Y391C

c.1172A>G

1 paper

NM_004562.3

p.Y391insFs

c.1171_1172insA

1 paper

NM_004562.3

p.Y391N

c.1171T>A

1 paper

NM_004562.3

p.R392T

c.1175G>C

1 paper

NM_004562.3

p.A390A

c.1170C>G

2 papers

NM_004562.3

p.R392fs

c.1174_1175fs

5 papers

NM_004562.3

p.V393D

c.1178T>A

2 papers

NM_004562.3

p.R392delFs

c.1175_1176delTC

1 paper

NM_004562.3

p.Q389_A390Splc

c.1168-1G>T

1 paper

NM_004562.3

p.Q389_A390Splc

c.1168-1G>C