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.P113delFs

c.337_338delGG

Surrounding Variants

7 papers

NM_004562.3

p.P113P

c.339A>T

1 paper

NM_004562.3

p.P113P

c.339A>G

1 paper

NM_004562.3

p.P113P

c.339A>C

16 papers

NM_004562.3

p.P113fs

c.337_338fs

1 paper

NM_004562.3

p.G114*

c.340G>T

2 papers

NM_004562.3

p.G114R

c.340G>C

2 papers

NM_004562.3

p.G114R

c.340G>A

2 papers

NM_004562.3

p.G114V

c.341G>T

1 paper

NM_004562.3

p.G114A

c.341G>C

2 papers

NM_004562.3

p.P113S

c.337C>T

3 papers

NM_004562.3

p.P113A

c.337C>G

3 papers

NM_004562.3

p.P113T

c.337C>A