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.A225fs

c.673_674fs

Surrounding Variants

2 papers

NM_004562.3

p.A225insFs

c.674_675insT

1 paper

NM_004562.3

p.A225delFs

c.673delC

1 paper

NM_004562.3

p.A225_L226insFs

c.675_676insA

7 papers

NM_004562.3

p.V224A

c.671T>C

1 paper

NM_004562.3

p.L226V

c.676T>G

2 papers

NM_004562.3

p.L226F

c.678G>T

2 papers

NM_004562.3

p.L226F

c.678G>C

2 papers

NM_004562.3

p.S223L

c.668C>T

1 paper

NM_004562.3

p.S223*

c.668C>G

1 paper

NM_004562.3

p.S223*

c.668C>A

1 paper

NM_004562.3

p.S223P

c.667T>C

1 paper

NM_004562.3

p.H227N

c.679C>A