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.N190K

c.570C>G

Surrounding Variants

2 papers

NM_004562.3

p.R191W

c.571C>T

2 papers

NM_004562.3

p.R191G

c.571C>G

4 papers

NM_004562.3

p.R191Q

c.572G>A

3 papers

NM_004562.3

p.P189L

c.566C>T

1 paper

NM_004562.3

p.P189R

c.566C>G

38 papers

NM_004562.3

p.M192L

c.574A>T

17 papers

NM_004562.3

p.M192V

c.574A>G

38 papers

NM_004562.3

p.M192L

c.574A>C

2 papers

NM_004562.3

p.M192insFs

c.574dupA

1 paper

NM_004562.3

p.P189S

c.565C>T

6 papers

NM_004562.3

p.S193I

c.578G>T

1 paper

NM_004562.3

p.S193T

c.578G>C