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

5 papers

NM_004562.3

p.K32T

c.95A>C

Surrounding Variants

2 papers

NM_004562.3

p.K32R

c.95A>G

1 paper

NM_004562.3

p.K32delins

c.95delinsGCGC

1 paper

NM_004562.3

p.K32Fs

c.94_95delinsGCGCFs

1 paper

NM_004562.3

p.K32N

c.96G>T

1 paper

NM_004562.3

p.K32_R33insFs

c.96_97insA

2 papers

NM_004562.3

p.K32N

c.96G>C

1 paper

NM_004562.3

p.K32K

c.96G>A

4 papers

NM_004562.3

p.K32E

c.94A>G

1 paper

NM_004562.3

p.A31A

c.93T>A

14 papers

NM_004562.3

p.R33*

c.97C>T

1 paper

NM_004562.3

p.R33G

c.97C>G

45 papers

NM_004562.3

p.R33Q

c.98G>A