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.L341V

c.1021C>G

Surrounding Variants

2 papers

NM_004562.3

p.L341L

c.1021C>T

1 paper

NM_004562.3

p.L341P

c.1022T>C

1 paper

NM_004562.3

p.A339_L341delFs

c.1017_1021del5

3 papers

NM_004562.3

p.L341L

c.1023G>A

2 papers

NM_004562.3

p.G340W

c.1018G>T

5 papers

NM_004562.3

p.G340R

c.1018G>A

1 paper

NM_004562.3

p.L342L

c.1024C>T

1 paper

NM_004562.3

p.L342Q

c.1025T>A

1 paper

NM_004562.3

p.L342delFs

c.1024delG

2 papers

NM_004562.3

p.A339A

c.1017G>A

1 paper

NM_004562.3

p.L342L

c.1026G>A

1 paper

NM_004562.3

p.A339V

c.1016C>T