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.P199insFs

c.597dupA

Surrounding Variants

2 papers

NM_004562.3

p.H200Y

c.598C>T

1 paper

NM_004562.3

p.H200P

c.599A>C

2 papers

NM_004562.3

p.P199L

c.596C>T

5 papers

NM_004562.3

p.H200Q

c.600C>G

4 papers

NM_004562.3

p.H200Q

c.600C>A

3 papers

NM_004562.3

p.C201insFs

c.601_602insA

3 papers

NM_004562.3

p.P199S

c.595C>T

1 paper

NM_004562.3

p.P199T

c.595C>A

2 papers

NM_004562.3

p.C201fs

c.601_602fs

3 papers

NM_004562.3

p.C201Y

c.602G>A

1 paper

NM_004562.3

p.S198insFs

c.592_593insT

3 papers

NM_004562.3

p.C201*

c.603C>A