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

7 papers

NM_004562.3

p.C253W

c.759C>G

Surrounding Variants

1 paper

NM_004562.3

p.C253C

c.759C>T

10 papers

NM_004562.3

p.C253F

c.758G>T

37 papers

NM_004562.3

p.C253Y

c.758G>A

1 paper

NM_004562.3

p.C253R

c.757T>C

1 paper

NM_004562.3

p.C253S

c.757T>A

6 papers

NM_004562.3

p.N254S

c.761A>G

2 papers

NM_004562.3

p.Q252H

c.756G>T

2 papers

NM_004562.3

p.Q252H

c.756G>C

2 papers

NM_004562.3

p.N254K

c.762C>A

1 paper

NM_004562.3

p.Q252*

c.754C>T

1 paper

NM_004562.3

p.Q252K

c.754C>A

1 paper

NM_004562.3

p.S255S

c.765C>A