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

42 papers

NM_004562.3

p.V56E

c.167T>A

Surrounding Variants

1 paper

NM_004562.3

p.V56G

c.167T>G

1 paper

NM_004562.3

p.V56A

c.167T>C

2 papers

NM_004562.3

p.V56L

c.166G>T

1 paper

NM_004562.3

p.V56L

c.166G>C

2 papers

NM_004562.3

p.V56M

c.166G>A

1 paper

NM_004562.3

p.T55T

c.165T>A

1 paper

NM_004562.3

p.Q57*

c.169C>T

4 papers

NM_004562.3

p.T55I

c.164C>T

1 paper

NM_004562.3

p.Q57H

c.171G>T

1 paper

NM_004562.3

p.Q57fs

c.169_170fs

2 papers

NM_004562.3

p.Q57H

c.171G>C

2 papers

NM_004562.3

p.Q57Q

c.171G>A