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.C337G

c.1009T>G

Surrounding Variants

1 paper

NM_004562.3

p.C337insFs

c.1010_1011insA

2 papers

NM_004562.3

p.C337Y

c.1010G>A

1 paper

NM_004562.3

p.C337C

c.1011T>C

1 paper

NM_004562.3

p.G336C

c.1006G>T

1 paper

NM_013988.3

p.G189R

c.565G>C

1 paper

NM_013988.3

p.G189R

c.565G>A

1 paper

NM_004562.3

p.G338V

c.1013G>T

1 paper

NM_004562.3

p.P335L

c.1004C>T

1 paper

NM_004562.3

p.G338G

c.1014A>G

10 papers

NM_004562.3

p.A339S

c.1015G>T

1 paper

NM_004562.3

p.G338_A339insFs

c.1014_1015ins4

7 papers

NM_004562.3

p.A339T

c.1015G>A