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.Y372F

c.1115A>T

Surrounding Variants

1 paper

NM_004562.3

p.Y372fs

c.1114_1115fs

1 paper

NM_004562.3

p.A371A

c.1113G>A

2 papers

NM_004562.3

p.H373D

c.1117C>G

1 paper

NM_004562.3

p.H373N

c.1117C>A

1 paper

NM_004562.3

p.A371V

c.1112C>T

1 paper

NM_004562.3

p.H373R

c.1118A>G

3 papers

NM_004562.3

p.A371T

c.1111G>A

1 paper

NM_004562.3

p.E370delFs

c.1110delT

1 paper

NM_004562.3

p.E374K

c.1120G>A

2 papers

NM_004562.3

p.E374G

c.1121A>G

2 papers

NM_004562.3

p.E370A

c.1109A>C

1 paper

NM_004562.3

p.E370Q

c.1108G>C