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

3 papers

NM_004562.3

p.G84R

c.250G>C

Surrounding Variants

3 papers

NM_004562.3

p.G84*

c.250G>T

3 papers

NM_004562.3

p.G84R

c.250G>A

1 paper

NM_004562.3

p.T83T

c.249T>A

1 paper

NM_004562.3

p.G84A

c.251G>C

1 paper

NM_004562.3

p.G84E

c.251G>A

2 papers

NM_004562.3

p.G85C

c.253G>T

4 papers

NM_004562.3

p.G85R

c.253G>C

1 paper

NM_004562.3

p.G85S

c.253G>A

2 papers

NM_004562.3

p.T83_G84del2

c.247_251del6

6 papers

NM_004562.3

p.T83A

c.247A>G

1 paper

NM_004562.3

p.N81_A82delFs

c.243_246del4

1 paper

NM_004562.3

p.G85A

c.254G>C