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.A172T

c.514G>A

Surrounding Variants

1 paper

NM_004562.3

p.A172P

c.514G>C

1 paper

NM_004562.3

p.A172insFs

c.515dupC

12 papers

NM_004562.3

p.Q171*

c.511C>T

1 paper

NM_004562.3

p.T173S

c.517A>T

8 papers

NM_004562.3

p.T173A

c.517A>G

12 papers

NM_004562.3

p.T173M

c.518C>T

1 paper

NM_004562.3

p.R170M

c.509G>T

2 papers

NM_004562.3

p.L174F

c.520C>T

1 paper

NM_004562.3

p.R170W

c.508A>T

2 papers

NM_004562.3

p.L174R

c.521T>G

3 papers

NM_004562.3

p.L174P

c.521T>C

1 paper

NM_004562.3

p.C169S

c.506G>C