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.E370A

c.1109A>C

Surrounding Variants

1 paper

NM_004562.3

p.E370Q

c.1108G>C

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.A371V

c.1112C>T

2 papers

NM_004562.3

p.K369I

c.1106A>T

2 papers

NM_004562.3

p.K369R

c.1106A>G

1 paper

NM_004562.3

p.A371A

c.1113G>A

1 paper

NM_004562.3

p.K369*

c.1105A>T

1 paper

NM_004562.3

p.K369E

c.1105A>G

2 papers

NM_004562.3

p.C368insFs

c.1103_1104insGA

1 paper

NM_004562.3

p.C368_K369insFs

c.1104_1105insGA

1 paper

NM_004562.3

p.Y372fs

c.1114_1115fs