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.T410T

c.1230C>A

Surrounding Variants

1 paper

NM_004562.3

p.T410T

c.1230C>T

2 papers

NM_004562.3

p.T410S

c.1229C>G

2 papers

NM_004562.3

p.T410S

c.1228A>T

1 paper

NM_004562.3

p.K412*

c.1234A>T

8 papers

NM_004562.3

p.E409G

c.1226A>G

1 paper

NM_004562.3

p.E409A

c.1226A>C

14 papers

NM_004562.3

p.E409*

c.1225G>T

1 paper

NM_004562.3

p.E409K

c.1225G>A

1 paper

NM_004562.3

p.K408delFs

c.1223delT

1 paper

NM_004562.3

p.K412R

c.1235A>G

6 papers

NM_004562.3

p.K408R

c.1223A>G

2 papers

NM_004562.3

p.K413R

c.1238A>G