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.K76E

c.226A>G

Surrounding Variants

1 paper

NM_004562.3

p.Q71_R75del5

c.211_224del15

4 papers

NM_004562.3

p.K76R

c.227A>G

1 paper

NM_004562.3

p.K76K

c.228A>G

1 paper

NM_004562.3

p.G77S

c.229G>A

2 papers

NM_004562.3

p.R75delFs

c.225delT

1 paper

NM_004562.3

p.R75*

c.223A>T

3 papers

NM_004562.3

p.R75G

c.223A>G

2 papers

NM_004562.3

p.R75R

c.223A>C

1 paper

NM_004562.3

p.R75insFs

c.223_224insC

1 paper

NM_004562.3

p.G77V

c.230G>T

5 papers

NM_004562.3

p.W74insFs

c.220_221dupTG

5 papers

NM_004562.3

p.W74fs

c.220_221fs