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.F208Y

c.623T>A

Surrounding Variants

1 paper

NM_004562.3

p.F208S

c.623T>C

1 paper

NM_004562.3

p.E207insFs

c.621dupA

1 paper

NM_004562.3

p.F208fs

c.622_623fs

1 paper

NM_004562.3

p.A206_E207Splc

c.619-1G>T

2 papers

NM_004562.3

p.A206_E207Splc

c.619-1G>C

6 papers

NM_004562.3

p.A206_E207Splc

c.619-1G>A

1 paper

NM_004562.3

p.F210Y

c.629T>A

3 papers

NM_004562.3

p.A206_E207Splc

c.619-2A>G

1 paper

NM_004562.3

p.K211Q

c.631A>C

1 paper

NM_004562.3

p.K211I

c.632A>T

12 papers

NM_004562.3

p.K211R

c.632A>G

NM_013988.3

p.K62R

c.185A>G

1 paper

NM_004562.3

p.K211insFs

c.632_633insT