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.N232S

c.695A>G

Surrounding Variants

1 paper

NM_004562.3

p.E221_T231delFs

c.661_692del32

2 papers

NM_004562.3

p.S233N

c.698G>A

1 paper

NM_004562.3

p.A230_T231insFs

c.690_691insA

1 paper

NM_004562.3

p.S233S

c.699T>C

3 papers

NM_004562.3

p.T231A

c.691A>G

1 paper

NM_004562.3

p.R234W

c.700C>T

26 papers

NM_004562.3

p.R234Q

c.701G>A

1 paper

NM_004562.3

p.A230V

c.689C>T

5 papers

NM_004562.3

p.A230T

c.688G>A

1 paper

NM_004562.3

p.N235I

c.704A>T

1 paper

NM_004562.3

p.N235N

c.705C>T

1 paper

NM_004562.3

p.N235K

c.705C>G