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.L342_D346del5

c.1024_1037del15

Surrounding Variants

2 papers

NM_004562.3

p.Q347H

c.1041G>T

2 papers

NM_004562.3

p.Q347H

c.1041G>C

4 papers

NM_004562.3

p.Q347*

c.1039C>T

1 paper

NM_004562.3

p.D346Y

c.1036G>T

2 papers

NM_004562.3

p.R348fs

c.1042_1043fs

2 papers

NM_004562.3

p.D346N

c.1036G>A

2 papers

NM_004562.3

p.Q347_R348delFs

c.1041_1042delTC

1 paper

NM_004562.3

p.P345R

c.1034C>G

4 papers

NM_004562.3

p.K349R

c.1046A>G

1 paper

NM_004562.3

p.P345S

c.1033C>T

1 paper

NM_004562.3

p.P345A

c.1033C>G

2 papers

NM_004562.3

p.K349fs

c.1045_1046fs