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.A397D

c.1190C>A

Surrounding Variants

1 paper

NM_004562.3

p.A397_A398insFs

c.1191_1192insG

1 paper

NM_004562.3

p.A398P

c.1192G>C

21 papers

NM_004562.3

p.A398T

c.1192G>A

2 papers

NM_004562.3

p.R396S

c.1188A>C

1 paper

NM_004562.3

p.R396T

c.1187G>C

3 papers

NM_004562.3

p.A398D

c.1193C>A

12 papers

NM_004562.3

p.R396G

c.1186A>G

1 paper

NM_004562.3

p.E399_Q400insCCA

c.1195_1199ins9

2 papers

NM_004562.3

p.E399Q

c.1195G>C

5 papers

NM_004562.3

p.E399K

c.1195G>A

1 paper

NM_004562.3

p.E399G

c.1196A>G

6 papers

NM_004562.3

p.E395*

c.1183G>T