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

1–12 of 1854 variants

346 papers

NM_004562.3

p.R275W

c.823C>T

203 papers

NM_004562.3

p.T240R

c.719C>G

169 papers

NM_004562.3

p.R42P

c.125G>C

129 papers

NM_004562.3

p.G430D

c.1289G>A

112 papers

NM_004562.3

p.V380L

c.1138G>C

110 papers

NM_004562.3

p.K161N

c.483A>T

110 papers

NM_004562.3

p.K161N

c.483A>C

110 papers

NM_004562.3

p.V380L

c.1138G>T

109 papers

NM_004562.3

p.T415N

c.1244C>A

105 papers

NM_004562.3

p.S167N

c.500G>A

102 papers

NM_004562.3

p.Q311*

c.931C>T

99 papers

NM_004562.3

p.K211N

c.633A>T