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.G77V

c.230G>T

Surrounding Variants

3 papers

NM_004562.3

p.G77A

c.230G>C

1 paper

NM_004562.3

p.G77D

c.230G>A

1 paper

NM_004562.3

p.G77_Q78insFs

c.231_232insGT

3 papers

NM_004562.3

p.G77G

c.231T>A

1 paper

NM_004562.3

p.G77S

c.229G>A

2 papers

NM_004562.3

p.R75delFs

c.225delT

2 papers

NM_004562.3

p.Q78*

c.232C>T

1 paper

NM_004562.3

p.Q78E

c.232C>G

1 paper

NM_004562.3

p.K76K

c.228A>G

3 papers

NM_004562.3

p.Q78L

c.233A>T

4 papers

NM_004562.3

p.K76R

c.227A>G

2 papers

NM_004562.3

p.Q78R

c.233A>G