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.T237N

c.710C>A

Surrounding Variants

1 paper

NM_004562.3

p.T237I

c.710C>T

1 paper

NM_004562.3

p.I236_T237Fs

c.708_709delinsTFs

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.I236M

c.708C>G

1 paper

NM_004562.3

p.I236T

c.707T>C

1 paper

NM_004562.3

p.I236N

c.707T>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