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

6 papers

NM_004562.3

p.H215Q

c.645C>A

Surrounding Variants

1 paper

NM_004562.3

p.H215H

c.645C>T

5 papers

NM_004562.3

p.H215Q

c.645C>G

2 papers

NM_004562.3

p.P216S

c.646C>T

3 papers

NM_004562.3

p.H215Y

c.643C>T

2 papers

NM_004562.3

p.A214V

c.641C>T

1 paper

NM_004562.3

p.T217fs

c.649_650fs

1 paper

NM_004562.3

p.F210_T217Fs

c.630_650delinsGCTGGGCFs

2 papers

NM_004562.3

p.A214T

c.640G>A

1 paper

NM_004562.3

p.T217T

c.651C>T

1 paper

NM_004562.3

p.S218P

c.652T>C

1 paper

NM_004562.3

p.S218T

c.652T>A

1 paper

NM_004562.3

p.T217del1

c.649_650delGGT