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.Q311L

c.932A>T

Surrounding Variants

2 papers

NM_004562.3

p.Q311R

c.932A>G

6 papers

NM_004562.3

p.Q311H

c.933G>T

5 papers

NM_004562.3

p.Q311H

c.933G>C

1 paper

NM_004562.3

p.Q311Q

c.933G>A

102 papers

NM_004562.3

p.Q311*

c.931C>T

1 paper

NM_004562.3

p.Q311K

c.931C>A

2 papers

NM_004562.3

p.E310delFs

c.930delC

8 papers

NM_004562.3

p.E310D

c.930G>T

2 papers

NM_004562.3

p.Q311_Y312Splc

c.933+1G>T

NM_013987.3

p.Q283_Y284Splc

c.849+1G>T

9 papers

NM_004562.3

p.E310D

c.930G>C

1 paper

NM_004562.3

p.Q311_Y312Splc

c.933+1G>A

1 paper

NM_004562.3

p.E310*

c.928G>T