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.E344fs

c.1030_1031fs

Surrounding Variants

2 papers

NM_013988.3

p.E195Q

c.583G>C

NM_004562.3

p.E344Q

c.1030G>C

1 paper

NM_004562.3

p.E344K

c.1030G>A

1 paper

NM_004562.3

p.P343delFs

c.1027delG

5 papers

NM_004562.3

p.E344G

c.1031A>G

1 paper

NM_004562.3

p.E344delFs

c.1030delC

5 papers

NM_004562.3

p.P343L

c.1028C>T

2 papers

NM_004562.3

p.P343Q

c.1028C>A

2 papers

NM_004562.3

p.P343S

c.1027C>T

1 paper

NM_004562.3

p.P345S

c.1033C>T

1 paper

NM_004562.3

p.P345A

c.1033C>G

1 paper

NM_004562.3

p.P343A

c.1027C>G

1 paper

NM_004562.3

p.L342L

c.1026G>A