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

8 papers

NM_004562.3

p.W54R

c.160T>A

Surrounding Variants

8 papers

NM_004562.3

p.W54R

c.160T>C

1 paper

NM_004562.3

p.N52_D53del2

c.154_158del6

1 paper

NM_004562.3

p.I44_D53del10

c.130_158del30

4 papers

NM_004562.3

p.D53E

c.159C>G

2 papers

NM_004562.3

p.D53E

c.159C>A

1 paper

NM_004562.3

p.W54C

c.162G>T

1 paper

NM_004562.3

p.W54C

c.162G>C

1 paper

NM_004562.3

p.W54*

c.162G>A

1 paper

NM_004562.3

p.D53V

c.158A>T

2 papers

NM_004562.3

p.D53G

c.158A>G

1 paper

NM_004562.3

p.D53A

c.158A>C

1 paper

NM_004562.3

p.D53Y

c.157G>T