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.R72*

c.214A>T

Surrounding Variants

1 paper

NM_004562.3

p.R72G

c.214A>G

1 paper

NM_004562.3

p.R72K

c.215G>A

1 paper

NM_004562.3

p.Q71Q

c.213G>A

2 papers

NM_004562.3

p.H68_R72delFs

c.204_214del11

1 paper

NM_004562.3

p.R72R

c.216A>G

1 paper

NM_004562.3

p.Q71P

c.212A>C

1 paper

NM_004562.3

p.P73fs

c.217_218fs

5 papers

NM_004562.3

p.Q71*

c.211C>T

1 paper

NM_004562.3

p.P73S

c.217C>T

3 papers

NM_004562.3

p.P73A

c.217C>G

1 paper

NM_004562.3

p.Q71E

c.211C>G

1 paper

NM_004562.3

p.P73T

c.217C>A