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.E96A

c.287A>C

Surrounding Variants

1 paper

NM_004562.3

p.E96V

c.287A>T

1 paper

NM_004562.3

p.E96G

c.287A>G

1 paper

NM_004562.3

p.E96D

c.288G>T

1 paper

NM_004562.3

p.E96*

c.286G>T

1 paper

NM_004562.3

p.E96D

c.288G>C

1 paper

NM_004562.3

p.E96Q

c.286G>C

5 papers

NM_004562.3

p.E96E

c.288G>A

1 paper

NM_004562.3

p.E96K

c.286G>A

1 paper

NM_004562.3

p.C95*

c.285T>A

3 papers

NM_004562.3

p.R97W

c.289C>T

69 papers

NM_004562.3

p.R97G

c.289C>G

2 papers

NM_004562.3

p.R97R

c.289C>A