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

2 papers

NM_004562.3

p.E98insFs

c.292_293ins10

Surrounding Variants

1 paper

NM_004562.3

p.E98V

c.293A>T

2 papers

NM_004562.3

p.E98G

c.293A>G

2 papers

NM_004562.3

p.E98A

c.293A>C

1 paper

NM_004562.3

p.E98insFs

c.293_294insC

1 paper

NM_004562.3

p.E98*

c.292G>T

1 paper

NM_004562.3

p.E98D

c.294G>C

7 papers

NM_004562.3

p.E98E

c.294G>A

1 paper

NM_004562.3

p.E98K

c.292G>A

1 paper

NM_004562.3

p.E98fs

c.292_293fs

3 papers

NM_004562.3

p.P99S

c.295C>T

2 papers

NM_004562.3

p.P99A

c.295C>G

2 papers

NM_004562.3

p.P99T

c.295C>A