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.L249V

c.745C>G

Surrounding Variants

1 paper

NM_004562.3

p.L249P

c.746T>C

1 paper

NM_004562.3

p.L249L

c.747G>C

1 paper

NM_004562.3

p.V248L

c.742G>C

4 papers

NM_004562.3

p.V248I

c.742G>A

1 paper

NM_004562.3

p.P247P

c.741C>T

1 paper

NM_004562.3

p.F251I

c.751T>A

6 papers

NM_004562.3

p.P247S

c.739C>T

1 paper

NM_004562.3

p.S246S

c.738C>T

1 paper

NM_004562.3

p.S246N

c.737G>A

1 paper

NM_004562.3

p.F251L

c.753C>A

1 paper

NM_004562.3

p.Q252*

c.754C>T

1 paper

NM_004562.3

p.Q252K

c.754C>A