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.A82A

c.246A>T

Surrounding Variants

2 papers

NM_004562.3

p.A82A

c.246A>G

1 paper

NM_004562.3

p.M80_A82delFs

c.239_245del7

1 paper

NM_004562.3

p.A82V

c.245C>T

1 paper

NM_004562.3

p.A82G

c.245C>G

67 papers

NM_004562.3

p.A82E

c.245C>A

6 papers

NM_004562.3

p.T83A

c.247A>G

1 paper

NM_004562.3

p.N81_A82delFs

c.243_246del4

2 papers

NM_004562.3

p.A82P

c.244G>C

1 paper

NM_004562.3

p.A82T

c.244G>A

1 paper

NM_004562.3

p.R75_N81delFs

c.225_243del19

1 paper

NM_004562.3

p.N81insFs

c.241_242insA

1 paper

NM_004562.3

p.T83T

c.249T>A