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.P132P

c.396A>C

Surrounding Variants

1 paper

NM_004562.3

p.P132P

c.396A>T

2 papers

NM_004562.3

p.P132delFs

c.394delG

1 paper

NM_004562.3

p.K129_P132del0

c.387_395del9

1 paper

NM_004562.3

p.P133_A134insP

c.397_401ins3

1 paper

NM_004562.3

p.P133fs

c.397_398fs

1 paper

NM_004562.3

p.P133L

c.398C>T

1 paper

NM_004562.3

p.P132S

c.394C>T

1 paper

NM_004562.3

p.P133R

c.398C>G

1 paper

NM_004562.3

p.S131insFs

c.393dupA

1 paper

NM_004562.3

p.P132T

c.394C>A

5 papers

NM_004562.3

p.P132fs

c.394_395fs

1 paper

NM_004562.3

p.P133_A134ins1

c.399_400insCCA