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

12 papers

NM_004562.3

p.C238W

c.714C>G

Surrounding Variants

3 papers

NM_004562.3

p.C238C

c.714C>T

1 paper

NM_004562.3

p.C238fs

c.712_713fs

1 paper

NM_004562.3

p.C238*

c.714C>A

1 paper

NM_004562.3

p.C238F

c.713G>T

2 papers

NM_004562.3

p.C238S

c.713G>C

2 papers

NM_004562.3

p.C238Y

c.713G>A

1 paper

NM_004562.3

p.C238delFs

c.712delA

1 paper

NM_004562.3

p.I239V

c.715A>G

1 paper

NM_004562.3

p.N232_T237ins2

c.694_711dup18

1 paper

NM_004562.3

p.C238R

c.712T>C

2 papers

NM_004562.3

p.C238S

c.712T>A

1 paper

NM_004562.3

p.I239M

c.717T>G