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.N58fs

c.172_173fs

Surrounding Variants

2 papers

NM_004562.3

p.Q57_N58Splc

c.172-1G>T

1 paper

NM_004562.3

p.Q57_N58Splc

c.172-1G>C

1 paper

NM_004562.3

p.C59R

c.175T>C

4 papers

NM_004562.3

p.C59S

c.175T>A

2 papers

NM_004562.3

p.C59F

c.176G>T

1 paper

NM_004562.3

p.C59S

c.176G>C

1 paper

NM_004562.3

p.C59Y

c.176G>A

2 papers

NM_004562.3

p.D60Y

c.178G>T

1 paper

NM_004562.3

p.D60N

c.178G>A

2 papers

NM_004562.3

p.D60V

c.179A>T

1 paper

NM_004562.3

p.D60G

c.179A>G

3 papers

NM_004562.3

p.D60E

c.180C>G