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

4 papers

NM_004562.3

p.T55I

c.164C>T

Surrounding Variants

1 paper

NM_004562.3

p.T55T

c.165T>A

1 paper

NM_004562.3

p.T55A

c.163A>G

1 paper

NM_004562.3

p.W54delFs

c.161delC

2 papers

NM_004562.3

p.V56L

c.166G>T

1 paper

NM_004562.3

p.W54C

c.162G>T

1 paper

NM_004562.3

p.V56L

c.166G>C

1 paper

NM_004562.3

p.W54C

c.162G>C

2 papers

NM_004562.3

p.V56M

c.166G>A

1 paper

NM_004562.3

p.W54*

c.162G>A

1 paper

NM_004562.3

p.V56G

c.167T>G

1 paper

NM_004562.3

p.V56A

c.167T>C

42 papers

NM_004562.3

p.V56E

c.167T>A