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

2 papers

NM_004562.3

p.M80T

c.239T>C

Surrounding Variants

2 papers

NM_004562.3

p.M80L

c.238A>T

3 papers

NM_004562.3

p.M80V

c.238A>G

2 papers

NM_004562.3

p.M80L

c.238A>C

1 paper

NM_004562.3

p.N81Y

c.241A>T

1 paper

NM_004562.3

p.N81H

c.241A>C

1 paper

NM_004562.3

p.N81I

c.242A>T

1 paper

NM_004562.3

p.E79G

c.236A>G

1 paper

NM_004562.3

p.E79A

c.236A>C

1 paper

NM_004562.3

p.N81insFs

c.241_242insA

16 papers

NM_004562.3

p.E79*

c.235G>T

2 papers

NM_004562.3

p.E79K

c.235G>A

2 papers

NM_004562.3

p.A82P

c.244G>C