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

11 papers

NM_004562.3

p.G93A

c.278G>C

Surrounding Variants

2 papers

NM_004562.3

p.G93V

c.278G>T

3 papers

NM_004562.3

p.G93E

c.278G>A

2 papers

NM_004562.3

p.G93*

c.277G>T

4 papers

NM_004562.3

p.G93R

c.277G>C

4 papers

NM_004562.3

p.G93R

c.277G>A

1 paper

NM_004562.3

p.G94R

c.280G>C

4 papers

NM_004562.3

p.G94S

c.280G>A

1 paper

NM_004562.3

p.A92A

c.276G>A

1 paper

NM_004562.3

p.N90_A92delFs

c.269_275del7

2 papers

NM_004562.3

p.G94A

c.281G>C

5 papers

NM_004562.3

p.A92V

c.275C>T

2 papers

NM_004562.3

p.A92S

c.274G>T